-
1
-
-
1042268038
-
Limb-girdle and congenital muscular dystrophies: Sharpening the focus, expanding the boundaries
-
Kirschner J, Bönnemann CG. Limb-girdle and congenital muscular dystrophies: sharpening the focus, expanding the boundaries. Arch Neurol 2004; 61:189-199.
-
(2004)
Arch Neurol
, vol.61
, pp. 189-199
-
-
Kirschner, J.1
Bönnemann, C.G.2
-
2
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001; 104:557-567.
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
3
-
-
0037630018
-
Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
-
Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107:2227-2232.
-
(2003)
Circulation
, vol.107
, pp. 2227-2232
-
-
Richard, P.1
Charron, P.2
Carrier, L.3
-
5
-
-
0000219872
-
Structural changes in muscle during contraction; interference microscopy of living muscle fibres
-
Huxley AF, Niedergerke R. Structural changes in muscle during contraction; interference microscopy of living muscle fibres. Nature 1954; 173:971-973.
-
(1954)
Nature
, vol.173
, pp. 971-973
-
-
Huxley, A.F.1
Niedergerke, R.2
-
6
-
-
36949093311
-
Changes in the cross-striations of muscle during contraction and stretch and their structural interpretation
-
Huxley H, Hanson J. Changes in the cross-striations of muscle during contraction and stretch and their structural interpretation. Nature 1954; 173:973-976.
-
(1954)
Nature
, vol.173
, pp. 973-976
-
-
Huxley, H.1
Hanson, J.2
-
7
-
-
0344759163
-
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
-
Salmikangas P, Mykkanen OM, Gronholm M, et al. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet 1999; 8:1329-1336.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1329-1336
-
-
Salmikangas, P.1
Mykkanen, O.M.2
Gronholm, M.3
-
8
-
-
0031590316
-
Telethonin, a novel sarcomeric protein of heart and skeletal muscle
-
Valle G, Faulkner G, De Antoni A, et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett 1997; 415:163-168.
-
(1997)
FEBS Lett
, vol.415
, pp. 163-168
-
-
Valle, G.1
Faulkner, G.2
De Antoni, A.3
-
9
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000; 9:2141-2147.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
-
10
-
-
0033954004
-
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
-
Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000; 24:163-166.
-
(2000)
Nat Genet
, vol.24
, pp. 163-166
-
-
Moreira, E.S.1
Wiltshire, T.J.2
Faulkner, G.3
-
11
-
-
0035833261
-
Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly
-
Young P, Ehler E, Gautel M. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. J Cell Biol 2001; 154:123-136.
-
(2001)
J Cell Biol
, vol.154
, pp. 123-136
-
-
Young, P.1
Ehler, E.2
Gautel, M.3
-
12
-
-
0035897410
-
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies
-
Bang ML, Mudry RE, McElhinny AS, et al. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol 2001; 153:413-427.
-
(2001)
J Cell Biol
, vol.153
, pp. 413-427
-
-
Bang, M.L.1
Mudry, R.E.2
McElhinny, A.S.3
-
13
-
-
0034731460
-
FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle
-
Faulkner G, Pallavicini A, Comelli A, et al. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. J Biol Chem 2000; 275:41234-41242.
-
(2000)
J Biol Chem
, vol.275
, pp. 41234-41242
-
-
Faulkner, G.1
Pallavicini, A.2
Comelli, A.3
-
14
-
-
0035852783
-
Myozenin: An alpha-actinin-and gamma-filamin-binding protein of skeletal muscle Z lines
-
Takada F, Vander Woude DL, Tong HQ, et al. Myozenin: an alpha-actinin-and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A 2001; 98:1595-1600.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 1595-1600
-
-
Takada, F.1
Vander Woude, D.L.2
Tong, H.Q.3
-
15
-
-
0035793703
-
Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain
-
Centner T, Yano J, Kimura E, et al. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. J Mol Biol 2001; 306:717-726.
-
(2001)
J Mol Biol
, vol.306
, pp. 717-726
-
-
Centner, T.1
Yano, J.2
Kimura, E.3
-
16
-
-
0142247618
-
The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules
-
Miller MK, Bang ML, Witt CC, et al. The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules. J Mol Biol 2003; 333:951-964. This paper shows that the muscle ankyrin repeat proteins bind the N2A region of titin, and along with calpain form a signalling complex that is activated by stretch and involves translocation of ankyrin repeat protein to the nucleus.
-
(2003)
J Mol Biol
, vol.333
, pp. 951-964
-
-
Miller, M.K.1
Bang, M.L.2
Witt, C.C.3
-
17
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
Sorimachi H, Kinbara K, Kimura S, et al. Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem 1995; 270:31158-31162.
-
(1995)
J Biol Chem
, vol.270
, pp. 31158-31162
-
-
Sorimachi, H.1
Kinbara, K.2
Kimura, S.3
-
18
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81:27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
-
19
-
-
2342479800
-
The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle
-
Kojic S, Medeot E, Guccione E, et al. The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. J Mol Biol 2004; 339:313-325.
-
(2004)
J Mol Biol
, vol.339
, pp. 313-325
-
-
Kojic, S.1
Medeot, E.2
Guccione, E.3
-
20
-
-
9144273787
-
Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling
-
Witt CC, Ono Y, Puschmann E, et al. Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling. J Mol Biol 2004; 336:145-154. This paper demonstrates using array technology that the disease in the muscular dystrophy mouse caused by a titin mutation is associated with increased expression of the muscle ankyrin repeat protein CARP and suppression of the Nkx2.5 pathway.
-
(2004)
J Mol Biol
, vol.336
, pp. 145-154
-
-
Witt, C.C.1
Ono, Y.2
Puschmann, E.3
-
21
-
-
0036723943
-
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
-
Epub July 2002 2026
-
Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71:492-500. Epub July 2002 2026.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 492-500
-
-
Hackman, P.1
Vihola, A.2
Haravuori, H.3
-
22
-
-
0038137333
-
Cardiac-restricted ankyrin-repeated protein is differentially induced in duchenne and congenital muscular dystrophy
-
Nakada C, Tsukamoto Y, Oka A, et al. Cardiac-restricted ankyrin-repeated protein is differentially induced in duchenne and congenital muscular dystrophy. Lab Invest 2003; 83:711-719. See Ref [23asterisk inside a circle signasterisk inside a circle sign].
-
(2003)
Lab Invest
, vol.83
, pp. 711-719
-
-
Nakada, C.1
Tsukamoto, Y.2
Oka, A.3
-
23
-
-
0242658656
-
Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy
-
Nakada C, Oka A, Nonaka I, et al. Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy. Pathol Int 2003; 53:653-658. These two papers demonstrate that the ankyrin repeat proteins may be involved in the muscle response to the denervation caused by the loss of motor neurons in spinal muscular atrophy, and to the pathophysiology of some congenital myopathies (all cases of myotubular myopathy investigated and some cases of nemaline myopathy) but not others (no cases of central core disease), as well as in the response to muscular dystrophies.
-
(2003)
Pathol Int
, vol.53
, pp. 653-658
-
-
Nakada, C.1
Oka, A.2
Nonaka, I.3
-
24
-
-
18344387677
-
Arpp, a new homolog of carp, is preferentially expressed in type 1 skeletal muscle fibers and is markedly induced by denervation
-
Tsukamoto Y, Senda T, Nakano T, et al. Arpp, a new homolog of carp, is preferentially expressed in type 1 skeletal muscle fibers and is markedly induced by denervation. Lab Invest 2002; 82:645-655.
-
(2002)
Lab Invest
, vol.82
, pp. 645-655
-
-
Tsukamoto, Y.1
Senda, T.2
Nakano, T.3
-
25
-
-
12244291970
-
Transient association of titin and myosin with microtubules in nascent myofibrils directed by the MURF2 RING-finger protein
-
Pizon V, Iakovenko A, Van Der Ven PF, et al. Transient association of titin and myosin with microtubules in nascent myofibrils directed by the MURF2 RING-finger protein. J Cell Sci 2002; 115:4469-4482.
-
(2002)
J Cell Sci
, vol.115
, pp. 4469-4482
-
-
Pizon, V.1
Iakovenko, A.2
Van Der Ven, P.F.3
-
26
-
-
0036544533
-
Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1
-
McElhinny AS, Kakinuma K, Sorimachi H, et al. Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1. J Cell Biol 2002; 157:125-136.
-
(2002)
J Cell Biol
, vol.157
, pp. 125-136
-
-
McElhinny, A.S.1
Kakinuma, K.2
Sorimachi, H.3
-
27
-
-
0037439275
-
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
-
Salmikangas P, van der Ven PF, Lalowski M, et al. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 2003; 12:189-203. This paper demonstrates a role for myotilin in myofibrillogenesis.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 189-203
-
-
Salmikangas, P.1
Van Der Ven, P.F.2
Lalowski, M.3
-
28
-
-
3242725958
-
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro
-
Kramerova I, Kudryashova E, Tidball JG, Spencer MJ. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum Mol Genet 2004; 13:1373-1388. This paper describes a role for the enzyme calpain in myofibrillogenesis.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1373-1388
-
-
Kramerova, I.1
Kudryashova, E.2
Tidball, J.G.3
Spencer, M.J.4
-
29
-
-
0344873275
-
Myoblast structure affects subsequent skeletal myotube morphology and sarcomere assembly
-
Berendse M, Grounds MD, Lloyd CM. Myoblast structure affects subsequent skeletal myotube morphology and sarcomere assembly. Exp Cell Res 2003; 291:435-450. This paper uses stably transfected skeletal muscle cell lines in culture to explore the role of the actin cytoskeleton as a scaffold for myofibrillogenesis.
-
(2003)
Exp Cell Res
, vol.291
, pp. 435-450
-
-
Berendse, M.1
Grounds, M.D.2
Lloyd, C.M.3
-
30
-
-
0034906020
-
Clinical and genetic heterogeneity in nemaline myopathy - A disease of skeletal muscle thin filaments
-
Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001; 7:362-368.
-
(2001)
Trends Mol Med
, vol.7
, pp. 362-368
-
-
Sanoudou, D.1
Beggs, A.H.2
-
31
-
-
0042164491
-
109th European Neuromuscular Centre International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, the Netherlands
-
Wallgren-Pettersson C, Laing NG. 109th European Neuromuscular Centre International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, the Netherlands. Neuromusc Disord 2003; 13:501-507.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 501-507
-
-
Wallgren-Pettersson, C.1
Laing, N.G.2
-
32
-
-
0035144733
-
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1 ) gene
-
Jungbluth H, Sewry CA, Brown SC, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1 ) gene. Neuromusc Disord 2001; 11:35-40.
-
(2001)
Neuromusc Disord
, vol.11
, pp. 35-40
-
-
Jungbluth, H.1
Sewry, C.A.2
Brown, S.C.3
-
33
-
-
0034848843
-
Nemaline myopathy: A clinical study of 143 cases
-
Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001; 50:312-320.
-
(2001)
Ann Neurol
, vol.50
, pp. 312-320
-
-
Ryan, M.M.1
Schnell, C.2
Strickland, C.D.3
-
34
-
-
0042702009
-
Beyond LGMD1 A: Myotilin is a component of central core lesions and nemaline rods
-
Schroder R, Reimann J, Salmikangas P, et al. Beyond LGMD1 A: myotilin is a component of central core lesions and nemaline rods. Neuromusc Disord 2003; 13:451-455.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 451-455
-
-
Schroder, R.1
Reimann, J.2
Salmikangas, P.3
-
35
-
-
0031009273
-
Congenital myopathy with excess of thin myofilaments
-
Goebel HH, Anderson JR, Hubner C, et al. Congenital myopathy with excess of thin myofilaments. Neuromusc Disord 1997; 7:160-168.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 160-168
-
-
Goebel, H.H.1
Anderson, J.R.2
Hubner, C.3
-
36
-
-
0037465365
-
Clinical course correlates poorly with muscle pathology in nemaline myopathy
-
Ryan MM, Ilkovski B, Strickland CD, et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 2003; 60:665-673. This is a comprehensive pathological analysis of 164 biopsies from 124 patients, showing that there is a poor correlation of pathological findings with clinical severity, although intranuclear rods only occurred in severe cases.
-
(2003)
Neurology
, vol.60
, pp. 665-673
-
-
Ryan, M.M.1
Ilkovski, B.2
Strickland, C.D.3
-
37
-
-
0034642231
-
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
-
Scacheri PC, Hoffman EP, Fratkin JD, et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000; 55:1689-1696.
-
(2000)
Neurology
, vol.55
, pp. 1689-1696
-
-
Scacheri, P.C.1
Hoffman, E.P.2
Fratkin, J.D.3
-
38
-
-
0034326318
-
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
-
Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000; 9:2599-2608.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2599-2608
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
-
39
-
-
0037306045
-
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RVR1 gene
-
Davis MR, Haan E, Jungbluth H, et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RVR1 gene. Neuromusc Disord 2003; 13:151-157.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 151-157
-
-
Davis, M.R.1
Haan, E.2
Jungbluth, H.3
-
40
-
-
0038495876
-
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
-
Epub June 2003 1544
-
Gommans IM, Davis M, Saar K, et al. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain 2003; 126:1545-1551. Epub June 2003 1544.
-
(2003)
Brain
, vol.126
, pp. 1545-1551
-
-
Gommans, I.M.1
Davis, M.2
Saar, K.3
-
41
-
-
1842576559
-
Molecular classification of nemaline myopathies: "Nontyping" specimens exhibit unique patterns of gene expression
-
Sanoudou D, Frieden LA, Haslett JN, et al. Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis 2004; 15:590-600.
-
(2004)
Neurobiol Dis
, vol.15
, pp. 590-600
-
-
Sanoudou, D.1
Frieden, L.A.2
Haslett, J.N.3
-
42
-
-
0038407627
-
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy
-
Gurgel-Giannetti J, Reed UC, Marie SK, et al. Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol 2003; 18:235-240.
-
(2003)
J Child Neurol
, vol.18
, pp. 235-240
-
-
Gurgel-Giannetti, J.1
Reed, U.C.2
Marie, S.K.3
-
43
-
-
0036788820
-
Nebulin mutations in autosomal recessive nemaline myopathy: An update
-
Pelin K, Donner K, Holmberg M, et al. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromusc Disord 2002; 12:680-686.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 680-686
-
-
Pelin, K.1
Donner, K.2
Holmberg, M.3
-
44
-
-
0032858915
-
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
-
Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999; 23:208-212.
-
(1999)
Nat Genet
, vol.23
, pp. 208-212
-
-
Nowak, K.J.1
Wattanasirichaigoon, D.2
Goebel, H.H.3
-
45
-
-
0042071493
-
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
-
Sparrow JC, Nowak KJ, Durling HJ, et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromusc Disord 2003; 13:519-531. This is a comprehensive and exhaustive analysis of a large number of actin mutations correlating predicted consequences of the mutations with the disease phenotype.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 519-531
-
-
Sparrow, J.C.1
Nowak, K.J.2
Durling, H.J.3
-
46
-
-
3042717143
-
Heterogeneity of clinical, pathological and molecular findings in nemaline myopathy cases due to skeletal muscle alpha-actinin (ACTA1) gene mutations
-
Agrawal PB, Strickland CD, Midgett C, et al. Heterogeneity of clinical, pathological and molecular findings in nemaline myopathy cases due to skeletal muscle alpha-actinin (ACTA1) gene mutations. Ann Neurol 2004; 56:86-96. This clinico-pathological analysis of actin mutation-positive cases concludes that actin mutations are overrepresented in the most severe of nemaline cases.
-
(2004)
Ann Neurol
, vol.56
, pp. 86-96
-
-
Agrawal, P.B.1
Strickland, C.D.2
Midgett, C.3
-
47
-
-
0036311912
-
Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period
-
Crawford K, Flick R, Close L, et al. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol 2002; 22:5887-5896.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 5887-5896
-
-
Crawford, K.1
Flick, R.2
Close, L.3
-
48
-
-
6944241979
-
Homozygous nonsense mutation in the ACTA1 gene - Clinical phenotype and muscle pathology
-
Romero NB, Barois A, Leroy JG, Oddy A, et al. Homozygous nonsense mutation in the ACTA1 gene - clinical phenotype and muscle pathology. Neuromusc Disord 2003; 13:619.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 619
-
-
Romero, N.B.1
Barois, A.2
Leroy, J.G.3
Oddy, A.4
-
49
-
-
0036788819
-
Mutations in the nebulin gene can cause severe congenital nemaline myopathy
-
Wallgren-Pettersson C, Donner K, Sewry C, et al. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromusc Disord 2002; 12:674-679.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 674-679
-
-
Wallgren-Pettersson, C.1
Donner, K.2
Sewry, C.3
-
50
-
-
0038353769
-
Nebulin: The nebulous, multifunctional giant of striated muscle
-
McElhinny AS, Kazmierski ST, Labeit S, Gregorio CC. Nebulin: the nebulous, multifunctional giant of striated muscle. Trends Cardiovasc Med 2003; 13:195-201.
-
(2003)
Trends Cardiovasc Med
, vol.13
, pp. 195-201
-
-
McElhinny, A.S.1
Kazmierski, S.T.2
Labeit, S.3
Gregorio, C.C.4
-
51
-
-
0028852835
-
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
-
Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995; 9:75-79.
-
(1995)
Nat Genet
, vol.9
, pp. 75-79
-
-
Laing, N.G.1
Wilton, S.D.2
Akkari, P.A.3
-
52
-
-
0032723891
-
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
-
Tan P, Briner J, Boltshauser E, et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromusc Disord 1999; 9:573-579.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 573-579
-
-
Tan, P.1
Briner, J.2
Boltshauser, E.3
-
53
-
-
0037183536
-
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy
-
Wattanasirichaigoon D, Swoboda KJ, Takada F, et al. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology 2002; 59:613-617.
-
(2002)
Neurology
, vol.59
, pp. 613-617
-
-
Wattanasirichaigoon, D.1
Swoboda, K.J.2
Takada, F.3
-
54
-
-
0036133714
-
Mutations in the beta-tropomyosin (TPM2) gene - A rare cause of nemaline myopathy
-
Donner K, Ollikainen M, Ridanpaa M, et al. Mutations in the beta-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromusc Disord 2002; 12:151-158.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 151-158
-
-
Donner, K.1
Ollikainen, M.2
Ridanpaa, M.3
-
55
-
-
0033799745
-
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
-
Epub August 2000 2021
-
Johnston JJ, Kelley RI, Crawford TO, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000; 67:814-821. Epub August 2000 2021.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 814-821
-
-
Johnston, J.J.1
Kelley, R.I.2
Crawford, T.O.3
-
56
-
-
0037447073
-
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
-
Sanoudou D, Haslett JN, Kho AT, et al. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A 2003; 100:4666-4671.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 4666-4671
-
-
Sanoudou, D.1
Haslett, J.N.2
Kho, A.T.3
-
57
-
-
0029807941
-
A revised and extended classification of the distal arthrogryposes
-
Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 1996; 65:277-281.
-
(1996)
Am J Med Genet
, vol.65
, pp. 277-281
-
-
Bamshad, M.1
Jorde, L.B.2
Carey, J.C.3
-
58
-
-
0037369803
-
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
-
Sung SS, Brassington AM, Grannatt K, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003; 72:681-690. This is the first demonstration of a mutation in components of the fast twitch troponin/tropomyosin complex underlying cases of DA1 and DA2B.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 681-690
-
-
Sung, S.S.1
Brassington, A.M.2
Grannatt, K.3
-
59
-
-
0038389782
-
Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B
-
Sung SS, Brassington AM, Krakowiak PA, et al. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 2003; 73:212-214.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 212-214
-
-
Sung, S.S.1
Brassington, A.M.2
Krakowiak, P.A.3
-
60
-
-
0022877314
-
Freeman-Sheldon syndrome: A disorder of congenital myopathic origin?
-
Vanek J, Janda J, Amblerova V, Losan F. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? J Med Genet 1986; 23:231-236.
-
(1986)
J Med Genet
, vol.23
, pp. 231-236
-
-
Vanek, J.1
Janda, J.2
Amblerova, V.3
Losan, F.4
-
61
-
-
0031830345
-
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
-
Darin N, Kyllerman M, Wahlstrom J, et al. Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998; 44:242-248.
-
(1998)
Ann Neurol
, vol.44
, pp. 242-248
-
-
Darin, N.1
Kyllerman, M.2
Wahlstrom, J.3
-
62
-
-
0034687697
-
Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene
-
Martinsson T, Oldfors A, Darin N, et al. Autosomal dominant myopathy: missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci U S A 2000; 97:14614-14619.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 14614-14619
-
-
Martinsson, T.1
Oldfors, A.2
Darin, N.3
-
63
-
-
0037066098
-
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age
-
Tajsharghi H, Thornell LE, Darin N, et al. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. Neurology 2002; 58:780-786.
-
(2002)
Neurology
, vol.58
, pp. 780-786
-
-
Tajsharghi, H.1
Thornell, L.E.2
Darin, N.3
-
64
-
-
0017356724
-
A new congenital myopathy: A morphological, cytochemical and histochemical study
-
Berl
-
Sahgal V, Sahgal S. A new congenital myopathy: a morphological, cytochemical and histochemical study. Acta Neuropathol (Berl) 1977; 37:225-230.
-
(1977)
Acta Neuropathol
, vol.37
, pp. 225-230
-
-
Sahgal, V.1
Sahgal, S.2
-
65
-
-
0027288603
-
Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy
-
Ceuterick C, Martin JJ, Martens C. Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy. Clin Neuropathol 1993; 12:79-83.
-
(1993)
Clin Neuropathol
, vol.12
, pp. 79-83
-
-
Ceuterick, C.1
Martin, J.J.2
Martens, C.3
-
66
-
-
17144455726
-
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
-
Onengut S, Ugur SA, Karasoy H, et al. Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromusc Disord 2004; 14:4-9.
-
(2004)
Neuromusc Disord
, vol.14
, pp. 4-9
-
-
Onengut, S.1
Ugur, S.A.2
Karasoy, H.3
-
67
-
-
9244247344
-
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
-
Wilhelmsen KC, Blake DM, Lynch T, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996; 39:507-520.
-
(1996)
Ann Neurol
, vol.39
, pp. 507-520
-
-
Wilhelmsen, K.C.1
Blake, D.M.2
Lynch, T.3
-
68
-
-
0141535360
-
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
-
Tajsharghi H, Thornell LE, Lindberg C, et al. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 2003; 54:494-500. This paper shows that the hyaline body myopathy, here called myosin storage myopathy, may be caused by a mutation in a myosin heavy chain that is commonly mutated in familial hypertrophic cardiomyopathy.
-
(2003)
Ann Neurol
, vol.54
, pp. 494-500
-
-
Tajsharghi, H.1
Thornell, L.E.2
Lindberg, C.3
-
69
-
-
2342547679
-
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy
-
Bohlega S, Abu-Amero SN, Wakil SM, et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 2004; 62:1518-1521. Confirmation of the association of MHY7 mutations in hyaline body myopathy, in combination with Ref. [68], providing an extended insight into the clinical and morphological spectrum of this myosin myopathy.
-
(2004)
Neurology
, vol.62
, pp. 1518-1521
-
-
Bohlega, S.1
Abu-Amero, S.N.2
Wakil, S.M.3
-
70
-
-
0344738673
-
Autosomal dominant hyaline body myopathy: Clinical variability and pathologic findings
-
Bohlega S, Lach B, Meyer BF, et al. Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. Neurology 2003; 61:1519-1523.
-
(2003)
Neurology
, vol.61
, pp. 1519-1523
-
-
Bohlega, S.1
Lach, B.2
Meyer, B.F.3
-
71
-
-
0031029620
-
Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: Clinical features and muscle pathology
-
Masuzugawa S, Kuzuhara S, Narita Y, et al. Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology. Neurology 1997; 48:253-257.
-
(1997)
Neurology
, vol.48
, pp. 253-257
-
-
Masuzugawa, S.1
Kuzuhara, S.2
Narita, Y.3
-
72
-
-
0027278526
-
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients
-
Udd B, Partanen J, Halonen P, et al. Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 1993; 50:604-608.
-
(1993)
Arch Neurol
, vol.50
, pp. 604-608
-
-
Udd, B.1
Partanen, J.2
Halonen, P.3
-
73
-
-
0031647195
-
The first European family with tibial muscular dystrophy outside the Finnish population
-
de Seze J, Udd B, Haravuori H, et al. The first European family with tibial muscular dystrophy outside the Finnish population. Neurology 1998; 51:1746-1748.
-
(1998)
Neurology
, vol.51
, pp. 1746-1748
-
-
De Seze, J.1
Udd, B.2
Haravuori, H.3
-
76
-
-
0036837608
-
104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies, 8-10th March 2002 in Naarden, the Netherlands
-
Udd B, Bushby K, Nonaka I, Griggs R. 104th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 8-10th March 2002 in Naarden, the Netherlands. Neuromusc Disord 2002; 12:897-904.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 897-904
-
-
Udd, B.1
Bushby, K.2
Nonaka, I.3
Griggs, R.4
-
77
-
-
0026777275
-
Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant gene?
-
Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? J Med Genet 1992; 29:383-389.
-
(1992)
J Med Genet
, vol.29
, pp. 383-389
-
-
Udd, B.1
-
78
-
-
0035836751
-
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
-
Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001; 56:869-877.
-
(2001)
Neurology
, vol.56
, pp. 869-877
-
-
Haravuori, H.1
Vihola, A.2
Straub, V.3
-
79
-
-
0033610050
-
Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
-
Satoh M, Takahashi M, Sakamoto T, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262:411-417.
-
(1999)
Biochem Biophys Res Commun
, vol.262
, pp. 411-417
-
-
Satoh, M.1
Takahashi, M.2
Sakamoto, T.3
-
80
-
-
0036478897
-
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
-
Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-204.
-
(2002)
Nat Genet
, vol.30
, pp. 201-204
-
-
Gerull, B.1
Gramlich, M.2
Atherton, J.3
-
82
-
-
0036916438
-
Myotilin mutation found in second pedigree with LGMD1A
-
Hauser MA, Conde CB, Kowaljow V, et al. Myotilin mutation found in second pedigree with LGMD1A. Am J Hum Genet 2002; 71:1428-1432.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1428-1432
-
-
Hauser, M.A.1
Conde, C.B.2
Kowaljow, V.3
-
83
-
-
0037211475
-
The 105th European Neuromuscular Centre sponsored workshop: Pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
-
Bushby KM, Beckmann JS. The 105th European Neuromuscular Centre sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromusc Disord 2003; 13:80-90.
-
(2003)
Neuromusc Disord
, vol.13
, pp. 80-90
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
84
-
-
1942473823
-
Mutations in myotilin cause myofibrillar myopathy
-
Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371. This paper establishes a second myotilin-associated disease, myofibrillar myopathy, in addition to LGMD1A. The morphological findings and the possibility of distal muscle involvement moves myotilinopathy closer to desmin and alphaB crystallin mutation cases.
-
(2004)
Neurology
, vol.62
, pp. 1363-1371
-
-
Selcen, D.1
Engel, A.G.2
-
85
-
-
0029875349
-
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
-
Nakano S, Engel AG, Waclawik AJ, et al. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55:549-562.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 549-562
-
-
Nakano, S.1
Engel, A.G.2
Waclawik, A.J.3
-
86
-
-
0029925575
-
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
-
De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996; 55:563-577.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 563-577
-
-
De Bleecker, J.L.1
Engel, A.G.2
Ertl, B.B.3
-
87
-
-
0344664368
-
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
-
Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003; 54:804-810.
-
(2003)
Ann Neurol
, vol.54
, pp. 804-810
-
-
Selcen, D.1
Engel, A.G.2
-
88
-
-
0742305818
-
Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients
-
Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004; 127:439-451. A careful study of the clinicopathological spectrum associated with myofibrillar myopathy, including genetic correlation in patients with desmin and alphaB crystallin mutations.
-
(2004)
Brain
, vol.127
, pp. 439-451
-
-
Selcen, D.1
Ohno, K.2
Engel, A.G.3
-
90
-
-
0032948848
-
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population
-
North KN, Yang N, Wattanasirichaigoon D, et al. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet 1999; 21:353-354.
-
(1999)
Nat Genet
, vol.21
, pp. 353-354
-
-
North, K.N.1
Yang, N.2
Wattanasirichaigoon, D.3
-
91
-
-
0041385595
-
ACTN3 genotype is associated with human elite athletic performance
-
Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003; 73:627-631. This study establishes that the occurrence of the stop codon polymorphism in alpha-actinin 3 is under selection in athletes, being more common in endurance and less common in sprint athletes.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 627-631
-
-
Yang, N.1
MacArthur, D.G.2
Gulbin, J.P.3
-
92
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
Smith FJ, Eady RA, Leigh IM, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996; 13:450-457.
-
(1996)
Nat Genet
, vol.13
, pp. 450-457
-
-
Smith, F.J.1
Eady, R.A.2
Leigh, I.M.3
-
93
-
-
0029798270
-
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
-
Pulkkinen L, Smith FJ, Shimizu H, et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet 1996; 5:1539-1546.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1539-1546
-
-
Pulkkinen, L.1
Smith, F.J.2
Shimizu, H.3
-
94
-
-
0032694076
-
Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature
-
Shimizu H, Takizawa Y, Pulkkinen L, et al. Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol 1999; 41:950-956.
-
(1999)
J Am Acad Dermatol
, vol.41
, pp. 950-956
-
-
Shimizu, H.1
Takizawa, Y.2
Pulkkinen, L.3
-
95
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993; 5:46-50.
-
(1993)
Nat Genet
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
Chen, H.S.2
Khanna, V.K.3
-
96
-
-
0035888611
-
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
-
Monnier N, Romero NB, Lerale J, et al. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet 2001; 10:2581-2592.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2581-2592
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
-
97
-
-
19044375929
-
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies
-
Epub August 2002 2021
-
Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002; 71:739-749. Epub August 2002 2021.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 739-749
-
-
Ferreiro, A.1
Quijano-Roy, S.2
Pichereau, C.3
-
98
-
-
0014498126
-
An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle
-
Schotland DL. An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle. J Neuropathol Exp Neurol 1969; 28:214-228.
-
(1969)
J Neuropathol Exp Neurol
, vol.28
, pp. 214-228
-
-
Schotland, D.L.1
|