-
1
-
-
0013902104
-
The cardiomyopathy of progressive muscular dystrophy
-
Perloff JK, De Leon AC, O'Doherty D. The cardiomyopathy of progressive muscular dystrophy. Circulation 1966;33:625-648
-
(1966)
Circulation
, vol.33
, pp. 625-648
-
-
Perloff, J.K.1
De Leon, A.C.2
O'Doherty, D.3
-
2
-
-
0014056078
-
The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy
-
Perloff JK, Roberts WC, De Leon AC, O'Doherty D. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. Am J Med 1967;42:179-188
-
(1967)
Am J Med
, vol.42
, pp. 179-188
-
-
Perloff, J.K.1
Roberts, W.C.2
De Leon, A.C.3
O'Doherty, D.4
-
3
-
-
0023835040
-
A comparative study of thallium-201 single-photon emission computed tomography and electrocardiography in Duchenne and other types of muscular dystrophy
-
Yamamoto S, Matsushima H, Sotobata I, et al. A comparative study of thallium-201 single-photon emission computed tomography and electrocardiography in Duchenne and other types of muscular dystrophy. Am J Cardiol 1988;61:836-843
-
(1988)
Am J Cardiol
, vol.61
, pp. 836-843
-
-
Yamamoto, S.1
Matsushima, H.2
Sotobata, I.3
-
4
-
-
0027358493
-
L'atteinte cardiaque au cours de certaines maladies musculaires. A propos de 216 observations
-
Monségu J, Duboc D, Freychet L, et al. L'atteinte cardiaque au cours de certaines maladies musculaires. A propos de 216 observations. Arch Mal Coeur 1993;86:1421-1426
-
(1993)
Arch Mal Coeur
, vol.86
, pp. 1421-1426
-
-
Monségu, J.1
Duboc, D.2
Freychet, L.3
-
5
-
-
0026546173
-
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy
-
De Visser M, De Voogt WG, La Rivière GV. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992;15:591-596
-
(1992)
Muscle Nerve
, vol.15
, pp. 591-596
-
-
De Visser, M.1
De Voogt, W.G.2
La Rivière, G.V.3
-
6
-
-
0025988091
-
The heart in muscular dystrophy: An electrocardiographic and ultrasound study of 20 patients
-
Berlit P, Stegaru-Hellring B. The heart in muscular dystrophy: an electrocardiographic and ultrasound study of 20 patients. Eur Arch Psychiatry Clin Neurosci 1991;241:177-180
-
(1991)
Eur Arch Psychiatry Clin Neurosci
, vol.241
, pp. 177-180
-
-
Berlit, P.1
Stegaru-Hellring, B.2
-
7
-
-
0024380341
-
Emery-Dreifuss muscular dystrophy and other related disorders
-
Emery AEH. Emery-Dreifuss muscular dystrophy and other related disorders. Br Med Bull 1989;45:772-787
-
(1989)
Br Med Bull
, vol.45
, pp. 772-787
-
-
Emery, A.E.H.1
-
8
-
-
0024419522
-
Emery-Dreifuss syndrome
-
Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989; 26:637-641
-
(1989)
J Med Genet
, vol.26
, pp. 637-641
-
-
Emery, A.E.H.1
-
9
-
-
0027377342
-
Cardiac involvement in Becker muscular dystrophy
-
Melacini P, Fanin M, Danieli GA, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol 1993;22: 1927-1934
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 1927-1934
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
-
12
-
-
0343453340
-
Cardiac findings in 73 patients with muscular dystrophy
-
Welsh JD, Lynn TN, Haase GR. Cardiac findings in 73 patients with muscular dystrophy. Arch Intern Med 1963;112: 97-104
-
(1963)
Arch Intern Med
, vol.112
, pp. 97-104
-
-
Welsh, J.D.1
Lynn, T.N.2
Haase, G.R.3
-
14
-
-
0003676282
-
Limb girdle syndromes
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Shields RW. Limb girdle syndromes. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1994:1258-1274
-
(1994)
Myology. 2nd Ed.
, pp. 1258-1274
-
-
Shields, R.W.1
-
15
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet 1995;10:243-245
-
(1995)
Nature Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
-
16
-
-
0026636142
-
Workshop report: Report on the 12th ENMC sponsored international workshop - The limb girdle muscular dystrophies
-
Bushby KMD. Workshop report: report on the 12th ENMC sponsored international workshop - the limb girdle muscular dystrophies. Neuromusc Disord 1992;2:3-5
-
(1992)
Neuromusc Disord
, vol.2
, pp. 3-5
-
-
Bushby, K.M.D.1
-
17
-
-
0026641278
-
Report of ENMC workshop on the limb-girdle muscular dystrophies
-
Clarke A. Report of ENMC workshop on the limb-girdle muscular dystrophies. J Med Genet 1992;29:753-755
-
(1992)
J Med Genet
, vol.29
, pp. 753-755
-
-
Clarke, A.1
-
18
-
-
0017259099
-
Benign myopathy with autosomal dominant inheritance
-
Bethlem J, Van Wijngaarden GK. Benign myopathy with autosomal dominant inheritance. Brain 1976;99:91-100
-
(1976)
Brain
, vol.99
, pp. 91-100
-
-
Bethlem, J.1
Van Wijngaarden, G.K.2
-
21
-
-
0016206413
-
A late autosomal dominant form of limb girdle muscular dystrophy
-
De Coster W, De Reuck J, Thiery E. A late autosomal dominant form of limb girdle muscular dystrophy. Eur Neurol 1974;12:159-172
-
(1974)
Eur Neurol
, vol.12
, pp. 159-172
-
-
De Coster, W.1
De Reuck, J.2
Thiery, E.3
-
22
-
-
0023856168
-
Clinical and genetic investigations in autosomal dominant limb girdle muscular dystrophy
-
Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigations in autosomal dominant limb girdle muscular dystrophy. Neurology 1988;37:5-9
-
(1988)
Neurology
, vol.37
, pp. 5-9
-
-
Gilchrist, J.M.1
Pericak-Vance, M.2
Silverman, L.3
Roses, A.D.4
-
23
-
-
0019132241
-
Dominantly inherited pseudohypertrophic muscular dystrophy with internalized capillaries
-
Hastings BA, Groothuis DR, Vick NA. Dominantly inherited pseudohypertrophic muscular dystrophy with internalized capillaries. Arch Neurol 1980;37:709-714
-
(1980)
Arch Neurol
, vol.37
, pp. 709-714
-
-
Hastings, B.A.1
Groothuis, D.R.2
Vick, N.A.3
-
25
-
-
0026794658
-
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype - The importance of dystrophin and molecular genetic analysis
-
Miller G, Beggs AH, Towfighi J. Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype - the importance of dystrophin and molecular genetic analysis. Neuromusc Disord 1992;2:121-124
-
(1992)
Neuromusc Disord
, vol.2
, pp. 121-124
-
-
Miller, G.1
Beggs, A.H.2
Towfighi, J.3
-
26
-
-
0025017776
-
Limb girdle syndromes: Clinical, morphological and electrophysiological studies
-
Panegyres PK, Mastaglia FL, Kakulas BA. Limb girdle syndromes: clinical, morphological and electrophysiological studies. J Neurol Sci 1990;95:201-218
-
(1990)
J Neurol Sci
, vol.95
, pp. 201-218
-
-
Panegyres, P.K.1
Mastaglia, F.L.2
Kakulas, B.A.3
-
27
-
-
0014478756
-
Genetic studies of a family with two autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly
-
Schneidermann LJ, Sampson WI, Schoene WC, Haydon GB. Genetic studies of a family with two autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Am J Med 1969;46:380-393
-
(1969)
Am J Med
, vol.46
, pp. 380-393
-
-
Schneidermann, L.J.1
Sampson, W.I.2
Schoene, W.C.3
Haydon, G.B.4
-
28
-
-
0026356242
-
Benign muscular dystrophy with autosomal dominant inheritance
-
Somer H, Laulumaa V, Paljärvi L, et al. Benign muscular dystrophy with autosomal dominant inheritance. Neuromusc Disord 1991;4:267-273
-
(1991)
Neuromusc Disord
, vol.4
, pp. 267-273
-
-
Somer, H.1
Laulumaa, V.2
Paljärvi, L.3
-
29
-
-
0027476943
-
First- or second-degree atrioventricular block as a risk factor in idiopathic dilated cardiomyopathy
-
Schoeller R, Andresen D, Büttner P, et al. First- or second-degree atrioventricular block as a risk factor in idiopathic dilated cardiomyopathy. Am J Cardiol 1993;71:720-726
-
(1993)
Am J Cardiol
, vol.71
, pp. 720-726
-
-
Schoeller, R.1
Andresen, D.2
Büttner, P.3
-
30
-
-
0017874580
-
Les myocardopathies des affections neuro-musculaires héréditaires
-
Faivre G, Souris D, Gregoire P, et al. Les myocardopathies des affections neuro-musculaires héréditaires. Arch Mal Coeur 1978;71:397-405
-
(1978)
Arch Mal Coeur
, vol.71
, pp. 397-405
-
-
Faivre, G.1
Souris, D.2
Gregoire, P.3
-
31
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
-
32
-
-
0026377661
-
Workshop report: European workshop on Emery-Dreifuss muscular dystrophy
-
Yates JRW. Workshop report: European workshop on Emery-Dreifuss muscular dystrophy. Neuromusc Disord 1991;1:393-396
-
(1991)
Neuromusc Disord
, vol.1
, pp. 393-396
-
-
Yates, J.R.W.1
-
34
-
-
0015549392
-
Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait
-
Mawatari S, Katayama K. Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. Arch Neurol 1973;28:55-59
-
(1973)
Arch Neurol
, vol.28
, pp. 55-59
-
-
Mawatari, S.1
Katayama, K.2
-
35
-
-
0027465216
-
Emery-Dreifuss muscular dystrophy: Linkage to markers in distal Xq28
-
Yates JRW, Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J Med Genet 1993;30:108-111
-
(1993)
J Med Genet
, vol.30
, pp. 108-111
-
-
Yates, J.R.W.1
Warner, J.P.2
Smith, J.A.3
-
36
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Gener 1994;8:323-327
-
(1994)
Nature Gener
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
-
37
-
-
0028892101
-
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
-
Nigro V, Bruni P, Ciccodicola A, et al. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995;4:2003-2004
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
-
38
-
-
0028865862
-
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
-
Bione S, Small K, Aksmanovic VMA, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4:1859-1863
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1859-1863
-
-
Bione, S.1
Small, K.2
Aksmanovic, V.M.A.3
-
39
-
-
0019783165
-
Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features
-
Chakrabarti A, Pearce JMS. Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry 1981;44:1146-1152
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 1146-1152
-
-
Chakrabarti, A.1
Pearce, J.M.S.2
-
40
-
-
0021859335
-
Emery-Dreifuss muscular dystrophy with autosomal dominant transmission
-
Miller RG, Layzer RB, Mellenthin MA, et al. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 1985;35:1230-1233
-
(1985)
Neurology
, vol.35
, pp. 1230-1233
-
-
Miller, R.G.1
Layzer, R.B.2
Mellenthin, M.A.3
-
41
-
-
0022979822
-
Maladie d'Emery-Dreifuss ou syndrome d'amyotrophie avec rétractions et troubles secondaires de la conduction cardiaque d'hérédité variable
-
Serratrice G, Pouget J. Maladie d'Emery-Dreifuss ou syndrome d'amyotrophie avec rétractions et troubles secondaires de la conduction cardiaque d'hérédité variable. Rev Neurol 1986; 142:766-770
-
(1986)
Rev Neurol
, vol.142
, pp. 766-770
-
-
Serratrice, G.1
Pouget, J.2
-
42
-
-
0025126599
-
Cardiac transplantation in female Emery-Dreifuss muscular dystrophy
-
Merchut MP, Zdonczyk D, Gujrati M. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol 1990; 237:316-319
-
(1990)
J Neurol
, vol.237
, pp. 316-319
-
-
Merchut, M.P.1
Zdonczyk, D.2
Gujrati, M.3
-
43
-
-
0025251574
-
Emery-Dreifuss syndrome in three generations of females, including identical twins
-
Orstavik KH, Kloster R, Lippestad C, et al. Emery-Dreifuss syndrome in three generations of females, including identical twins. Clin Genet 1990;38:447-451
-
(1990)
Clin Genet
, vol.38
, pp. 447-451
-
-
Orstavik, K.H.1
Kloster, R.2
Lippestad, C.3
-
44
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
-
Voit T, Krogmann O, Lenard HG. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988;19:62-71
-
(1988)
Neuropediatrics
, vol.19
, pp. 62-71
-
-
Voit, T.1
Krogmann, O.2
Lenard, H.G.3
-
45
-
-
0023886465
-
Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease
-
Witt TN, Garner CG, Pongratz D, Baur X. Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease. Eur Arch Psychiatry Clin Neurosci 1988; 237:230-236
-
(1988)
Eur Arch Psychiatry Clin Neurosci
, vol.237
, pp. 230-236
-
-
Witt, T.N.1
Garner, C.G.2
Pongratz, D.3
Baur, X.4
-
46
-
-
0023253935
-
Autosomal dominantes Humero-Peroneales Syndrom mit frühzeitigen Kontrakturen und Kardiomyopathie (Emery-Dreifuss-Syndrom)
-
Baur X, Witt TN, Pongratz D, et al. Autosomal dominantes Humero-Peroneales Syndrom mit frühzeitigen Kontrakturen und Kardiomyopathie (Emery-Dreifuss-Syndrom). Klin Wochenschr 1987;65:738-745
-
(1987)
Klin Wochenschr
, vol.65
, pp. 738-745
-
-
Baur, X.1
Witt, T.N.2
Pongratz, D.3
-
47
-
-
9244226090
-
A dominantly inherited myopathy with contractures, heart failure, and marked variability of expression
-
Abstract
-
Krendel DA, Jannun DR. A dominantly inherited myopathy with contractures, heart failure, and marked variability of expression. Neurology 1987;37(suppl 1):208-209 (Abstract)
-
(1987)
Neurology
, vol.37
, Issue.1 SUPPL.
, pp. 208-209
-
-
Krendel, D.A.1
Jannun, D.R.2
-
48
-
-
0022647863
-
Autosomal dominant humeroperoneal myopathy
-
Gilchrist JM, Leshner RT. Autosomal dominant humeroperoneal myopathy. Arch Neurol 1986;43:734-735
-
(1986)
Arch Neurol
, vol.43
, pp. 734-735
-
-
Gilchrist, J.M.1
Leshner, R.T.2
-
49
-
-
0024515051
-
Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality
-
Tanaka K, Yoshimura T, Muratani H, et al. Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality. J Neurol 1989;236:52-54
-
(1989)
J Neurol
, vol.236
, pp. 52-54
-
-
Tanaka, K.1
Yoshimura, T.2
Muratani, H.3
-
50
-
-
0022667346
-
Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: A genetic variant of Emery-Dreifuss muscular dystrophy
-
Galassi G, Modena MG, Benassi A, et al. Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss muscular dystrophy. Ital J Neurol Sci 1986;7:125-132
-
(1986)
Ital J Neurol Sci
, vol.7
, pp. 125-132
-
-
Galassi, G.1
Modena, M.G.2
Benassi, A.3
-
51
-
-
0000990095
-
Muscular shortening and dystrophy: A heredofamilial disease
-
Hauptmann A, Thannhauser SY. Muscular shortening and dystrophy: a heredofamilial disease. Arch Neurol Psychiatry 1941;46:654-664
-
(1941)
Arch Neurol Psychiatry
, vol.46
, pp. 654-664
-
-
Hauptmann, A.1
Thannhauser, S.Y.2
-
52
-
-
9244224774
-
Differential diagnosis
-
Emery AEH, ed. Oxford: Oxford Medical Publications
-
Emery AEH. Differential diagnosis. In: Emery AEH, ed. Duchenne muscular dystrophy. 2nd ed. Oxford: Oxford Medical Publications, 1993:80-107
-
(1993)
Duchenne Muscular Dystrophy. 2nd Ed.
, pp. 80-107
-
-
Emery, A.E.H.1
-
53
-
-
0020398795
-
An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy
-
Fenichel GM, Chul Sul Y, Kilroy AW, Blouin R. An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology 1982;32:1399-1401
-
(1982)
Neurology
, vol.32
, pp. 1399-1401
-
-
Fenichel, G.M.1
Chul Sul, Y.2
Kilroy, A.W.3
Blouin, R.4
-
54
-
-
9244221226
-
Emery-Dreifuss muscular dystrophy (EDMD) with atrial tachycardia and apparent autosomal dominant inheritance
-
Michaels J, Krol RB, Bach J, et al. Emery-Dreifuss muscular dystrophy (EDMD) with atrial tachycardia and apparent autosomal dominant inheritance. Am J Hum Genet 1991; 49(suppl):151
-
(1991)
Am J Hum Genet
, vol.49
, Issue.SUPPL.
, pp. 151
-
-
Michaels, J.1
Krol, R.B.2
Bach, J.3
-
55
-
-
0021702524
-
A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis
-
Takamoto K, Hirose K, Uono M, Nonaka I. A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. Arch Neurol 1984;41:1292-1293
-
(1984)
Arch Neurol
, vol.41
, pp. 1292-1293
-
-
Takamoto, K.1
Hirose, K.2
Uono, M.3
Nonaka, I.4
-
56
-
-
9244219758
-
Autosomal dominant limb-girdle muscular dystrophy with progressive cardiomyopathy
-
Graham JM, Rawnsley ES, Nordgren R, Fratkin J. Autosomal dominant limb-girdle muscular dystrophy with progressive cardiomyopathy. Am J Med Genet 1986;25:720-721
-
(1986)
Am J Med Genet
, vol.25
, pp. 720-721
-
-
Graham, J.M.1
Rawnsley, E.S.2
Nordgren, R.3
Fratkin, J.4
|