메뉴 건너뛰기




Volumn 23, Issue 3, 2012, Pages 589-608

A practical approach to molecular diagnostic testing in neuromuscular diseases

Author keywords

Genetic disorders; Genomic technologies; Molecular diagnostic testing; Neuromuscular diseases

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DIAGNOSTIC ACCURACY; FAMILY PLANNING; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENOMICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOTOR NEURON DISEASE; MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; NEUROPATHY; PATIENT CARE; PRIORITY JOURNAL; REVIEW;

EID: 84865566310     PISSN: 10479651     EISSN: 15581381     Source Type: Journal    
DOI: 10.1016/j.pmr.2012.06.002     Document Type: Review
Times cited : (15)

References (85)
  • 1
    • 77955268106 scopus 로고    scopus 로고
    • Clinical and genetic characterization of manifesting carriers of DMD mutations
    • Soltanzadeh P., Friez M.J., Dunn D., et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010, 20(8):499-504.
    • (2010) Neuromuscul Disord , vol.20 , Issue.8 , pp. 499-504
    • Soltanzadeh, P.1    Friez, M.J.2    Dunn, D.3
  • 2
    • 34249865085 scopus 로고    scopus 로고
    • Utilization and diagnostic yield of neurogenetic testing at a tertiary care facility
    • Edlefsen K.L., Tait J.F., Wener M.H., et al. Utilization and diagnostic yield of neurogenetic testing at a tertiary care facility. Clin Chem 2007, 53(6):1016-1022.
    • (2007) Clin Chem , vol.53 , Issue.6 , pp. 1016-1022
    • Edlefsen, K.L.1    Tait, J.F.2    Wener, M.H.3
  • 3
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease subtypes and genetic testing strategies
    • Saporta A.S., Sottile S.L., Miller L.J., et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011, 69(1):22-33.
    • (2011) Ann Neurol , vol.69 , Issue.1 , pp. 22-33
    • Saporta, A.S.1    Sottile, S.L.2    Miller, L.J.3
  • 4
    • 81455134414 scopus 로고    scopus 로고
    • Strategy for genetic testing in Charcot-Marie-disease
    • Miller L.J., Saporta A.S., Sottile S.L., et al. Strategy for genetic testing in Charcot-Marie-disease. Acta Myologica 2011, 30(2):109-116.
    • (2011) Acta Myologica , vol.30 , Issue.2 , pp. 109-116
    • Miller, L.J.1    Saporta, A.S.2    Sottile, S.L.3
  • 5
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
    • Nelis E., Van Broeckhoven C., De Jonghe P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996, 4(1):25-33.
    • (1996) Eur J Hum Genet , vol.4 , Issue.1 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3
  • 6
    • 85013982613 scopus 로고    scopus 로고
    • W.B. Saunders, Philadelphia, P.J. Dyck, P.K. Thomas (Eds.)
    • Peripheral neuropathy 2005, W.B. Saunders, Philadelphia. 4th edition. P.J. Dyck, P.K. Thomas (Eds.).
    • (2005) Peripheral neuropathy
  • 7
    • 27144483990 scopus 로고    scopus 로고
    • Mutations in SEPT9 cause hereditary neuralgic amyotrophy
    • Kuhlenbaumer G., Hannibal M.C., Nelis E., et al. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet 2005, 37(10):1044-1046.
    • (2005) Nat Genet , vol.37 , Issue.10 , pp. 1044-1046
    • Kuhlenbaumer, G.1    Hannibal, M.C.2    Nelis, E.3
  • 8
    • 66149145879 scopus 로고    scopus 로고
    • SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
    • Hannibal M.C., Ruzzo E.K., Miller L.R., et al. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology 2009, 72(20):1755-1759.
    • (2009) Neurology , vol.72 , Issue.20 , pp. 1755-1759
    • Hannibal, M.C.1    Ruzzo, E.K.2    Miller, L.R.3
  • 9
    • 0024332294 scopus 로고
    • Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
    • Mendell J.R., Moxley R.T., Griggs R.C., et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med 1592, 320(24):1592-1597.
    • (1592) N Engl J Med , vol.320 , Issue.24 , pp. 1592-1597
    • Mendell, J.R.1    Moxley, R.T.2    Griggs, R.C.3
  • 10
    • 3843121117 scopus 로고    scopus 로고
    • Glucocorticoid corticosteroids for Duchenne muscular dystrophy
    • CD003725; PMID: 15106215. Cochrane Database Syst Rev 2008;1
    • Manzur A.Y., Kuntzer T., Pike M., et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2004, (2). CD003725; PMID: 15106215. Cochrane Database Syst Rev 2008;1.
    • (2004) Cochrane Database Syst Rev , Issue.2
    • Manzur, A.Y.1    Kuntzer, T.2    Pike, M.3
  • 11
    • 4344588135 scopus 로고    scopus 로고
    • Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
    • Bushby K., Muntoni F., Urtizberea A., et al. Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord 2004, 14(8-9):526-534.
    • (2004) Neuromuscul Disord , vol.14 , Issue.8-9 , pp. 526-534
    • Bushby, K.1    Muntoni, F.2    Urtizberea, A.3
  • 12
    • 20144389134 scopus 로고    scopus 로고
    • Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
    • Dent K.M., Dunn D.M., von Niederhausern A.C., et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 2005, 134(3):295-298.
    • (2005) Am J Med Genet A , vol.134 , Issue.3 , pp. 295-298
    • Dent, K.M.1    Dunn, D.M.2    von Niederhausern, A.C.3
  • 13
    • 23844539257 scopus 로고    scopus 로고
    • Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    • Prior T.W., Bridgeman S.J. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005, 7(3):317-326.
    • (2005) J Mol Diagn , vol.7 , Issue.3 , pp. 317-326
    • Prior, T.W.1    Bridgeman, S.J.2
  • 14
    • 33644814036 scopus 로고    scopus 로고
    • Deletion and duplication screening in the DMD gene using MLPA
    • Lalic T., Vossen R.H., Coffa J., et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005, 13(11):1231-1234.
    • (2005) Eur J Hum Genet , vol.13 , Issue.11 , pp. 1231-1234
    • Lalic, T.1    Vossen, R.H.2    Coffa, J.3
  • 15
    • 51549094171 scopus 로고    scopus 로고
    • Microarray-based mutation detection in the dystrophin gene
    • Hegde M.R., Chin E.L., Mulle J.G., et al. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008, 29(9):1091-1099.
    • (2008) Hum Mutat , vol.29 , Issue.9 , pp. 1091-1099
    • Hegde, M.R.1    Chin, E.L.2    Mulle, J.G.3
  • 16
    • 51549110776 scopus 로고    scopus 로고
    • Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
    • Saillour Y., Cossée M., Leturcq F., et al. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 2008, 29(9):1083-1090.
    • (2008) Hum Mutat , vol.29 , Issue.9 , pp. 1083-1090
    • Saillour, Y.1    Cossée, M.2    Leturcq, F.3
  • 17
    • 51549110163 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    • Gaudio D.D., Yang Y., Boggs B.A., et al. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008, 29(9):1100-1107.
    • (2008) Hum Mutat , vol.29 , Issue.9 , pp. 1100-1107
    • Gaudio, D.D.1    Yang, Y.2    Boggs, B.A.3
  • 18
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco A.P., Bertelson C.J., Liechti-Gallati S., et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2(1):90-95.
    • (1988) Genomics , vol.2 , Issue.1 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3
  • 19
    • 71749114728 scopus 로고    scopus 로고
    • Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
    • Flanigan K.M., Dunn D.M., von Niederhausern A., et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009, 30(12):1657-1666.
    • (2009) Hum Mutat , vol.30 , Issue.12 , pp. 1657-1666
    • Flanigan, K.M.1    Dunn, D.M.2    von Niederhausern, A.3
  • 20
    • 79951782036 scopus 로고    scopus 로고
    • Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
    • Flanigan K.M., Dunn D.M., von Niederhausern A., et al. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat 2011, 32(3):299-308.
    • (2011) Hum Mutat , vol.32 , Issue.3 , pp. 299-308
    • Flanigan, K.M.1    Dunn, D.M.2    von Niederhausern, A.3
  • 21
    • 75349087615 scopus 로고    scopus 로고
    • Diagnosis and management of the limb girdle muscular dystrophies
    • Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009, 9(6):314-323.
    • (2009) Pract Neurol , vol.9 , Issue.6 , pp. 314-323
    • Bushby, K.1
  • 22
    • 0034284682 scopus 로고    scopus 로고
    • Myotilin is mutated in limb girdle muscular dystrophy 1A
    • Hauser M.A., Horrigan S.K., Salmikangas P., et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000, 9(14):2141-2147.
    • (2000) Hum Mol Genet , vol.9 , Issue.14 , pp. 2141-2147
    • Hauser, M.A.1    Horrigan, S.K.2    Salmikangas, P.3
  • 23
    • 26044435388 scopus 로고    scopus 로고
    • Myotilinopathy: refining the clinical and myopathological phenotype
    • Olivé M., Goldfarb L.G., Shatunov A., et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005, 128(10):2315-2326.
    • (2005) Brain , vol.128 , Issue.10 , pp. 2315-2326
    • Olivé, M.1    Goldfarb, L.G.2    Shatunov, A.3
  • 24
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A., Bonne G., van der Kooi A.J., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000, 9(9):1453-1459.
    • (2000) Hum Mol Genet , vol.9 , Issue.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3
  • 25
    • 0034792435 scopus 로고    scopus 로고
    • Caveolae and caveolin-3 in muscular dystrophy
    • Galbiati F., Razani B., Lisanti M.P. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001, 7(10):435-441.
    • (2001) Trends Mol Med , vol.7 , Issue.10 , pp. 435-441
    • Galbiati, F.1    Razani, B.2    Lisanti, M.P.3
  • 26
    • 0033073978 scopus 로고    scopus 로고
    • Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
    • Speer M.C., Vance J.M., Grubber J.M., et al. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet 1999, 64(2):556-562.
    • (1999) Am J Hum Genet , vol.64 , Issue.2 , pp. 556-562
    • Speer, M.C.1    Vance, J.M.2    Grubber, J.M.3
  • 27
    • 84859432401 scopus 로고    scopus 로고
    • Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    • Sarparanta J., Jonson P.H., Golzio C., et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet 2012, 44(4):450-455.
    • (2012) Nat Genet , vol.44 , Issue.4 , pp. 450-455
    • Sarparanta, J.1    Jonson, P.H.2    Golzio, C.3
  • 28
    • 84856147995 scopus 로고    scopus 로고
    • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics
    • Greenberg S.A., Salajegheh M., Judge D.P., et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol 2012, 71(1):141-145.
    • (2012) Ann Neurol , vol.71 , Issue.1 , pp. 141-145
    • Greenberg, S.A.1    Salajegheh, M.2    Judge, D.P.3
  • 29
    • 10744227162 scopus 로고    scopus 로고
    • A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2
    • Palenzuela L., Andreu A.L., Gàmez J., et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 2003, 61(3):404-406.
    • (2003) Neurology , vol.61 , Issue.3 , pp. 404-406
    • Palenzuela, L.1    Andreu, A.L.2    Gàmez, J.3
  • 30
    • 10044247184 scopus 로고    scopus 로고
    • A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
    • Starling A., Kok F., Passos-Bueno M.R., et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004, 12(12):1033-1040.
    • (2004) Eur J Hum Genet , vol.12 , Issue.12 , pp. 1033-1040
    • Starling, A.1    Kok, F.2    Passos-Bueno, M.R.3
  • 31
    • 77952670370 scopus 로고    scopus 로고
    • A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
    • Bisceglia L., Zoccolella S., Torraco A., et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010, 18(6):636-641.
    • (2010) Eur J Hum Genet , vol.18 , Issue.6 , pp. 636-641
    • Bisceglia, L.1    Zoccolella, S.2    Torraco, A.3
  • 32
    • 0028905205 scopus 로고
    • 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(1):27-40.
    • (1995) Cell , vol.81 , Issue.1 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3
  • 33
    • 0028326542 scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
    • Bashlr R., Strachan T., Keers S., et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994, 3(3):455-457.
    • (1994) Hum Mol Genet , vol.3 , Issue.3 , pp. 455-457
    • Bashlr, R.1    Strachan, T.2    Keers, S.3
  • 34
    • 0028951204 scopus 로고
    • Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
    • Bejaoui K., Hirabayashi K., Hentati F., et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995, 45(4):768-772.
    • (1995) Neurology , vol.45 , Issue.4 , pp. 768-772
    • Bejaoui, K.1    Hirabayashi, K.2    Hentati, F.3
  • 35
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S., McNally E.M., Ben Othmane K., et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270(5237):819-822.
    • (1995) Science , vol.270 , Issue.5237 , pp. 819-822
    • Noguchi, S.1    McNally, E.M.2    Ben Othmane, K.3
  • 36
    • 0026757138 scopus 로고
    • Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K., Tome F.M., Collin H., et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992, 359(6393):320-322.
    • (1992) Nature , vol.359 , Issue.6393 , pp. 320-322
    • Matsumura, K.1    Tome, F.M.2    Collin, H.3
  • 37
    • 0028971221 scopus 로고
    • [beta]-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim L.E., Duclos F., Broux O., et al. [beta]-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995, 11(3):257-265.
    • (1995) Nat Genet , vol.11 , Issue.3 , pp. 257-265
    • Lim, L.E.1    Duclos, F.2    Broux, O.3
  • 38
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb girdle muscular dystrophy, LGMD2F, is caused by a mutation in the [delta]-sarcoglycan gene
    • Nigro V., de Sá Moreira E., Piluso G., et al. Autosomal recessive limb girdle muscular dystrophy, LGMD2F, is caused by a mutation in the [delta]-sarcoglycan gene. Nat Genet 1996, 14(2):195-198.
    • (1996) Nat Genet , vol.14 , Issue.2 , pp. 195-198
    • Nigro, V.1    de Sá Moreira, E.2    Piluso, G.3
  • 39
    • 0033954004 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    • Moreira E.S., Wiltshire T.J., 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(2):163-166.
    • (2000) Nat Genet , vol.24 , Issue.2 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3
  • 40
    • 38949158549 scopus 로고    scopus 로고
    • Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H
    • Saccone V., Palmieri M., Passamano L., et al. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat 2008, 29(2):240-247.
    • (2008) Hum Mutat , vol.29 , Issue.2 , pp. 240-247
    • Saccone, V.1    Palmieri, M.2    Passamano, L.3
  • 41
    • 0031954817 scopus 로고    scopus 로고
    • Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2
    • Bushby K., Anderson L.V., Pollitt C., et al. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain 1998, 121(Pt 4):581-588.
    • (1998) Brain , vol.121 , Issue.PART 4 , pp. 581-588
    • Bushby, K.1    Anderson, L.V.2    Pollitt, C.3
  • 42
    • 0035836751 scopus 로고    scopus 로고
    • 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(7):869-877.
    • (2001) Neurology , vol.56 , Issue.7 , pp. 869-877
    • Haravuori, H.1    Vihola, A.2    Straub, V.3
  • 43
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    • 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(3):492-500.
    • (2002) Am J Hum Genet , vol.71 , Issue.3 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3
  • 44
    • 20144388364 scopus 로고    scopus 로고
    • An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
    • Burcu B.B., Gökhan G.U., Pervin P.D., et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005, 15(4):271-275.
    • (2005) Neuromuscul Disord , vol.15 , Issue.4 , pp. 271-275
    • Burcu, B.B.1    Gökhan, G.U.2    Pervin, P.D.3
  • 45
    • 76249096210 scopus 로고    scopus 로고
    • Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. CORD Conference Proceedings
    • Bolduc V., Marlow G., Boycott K.M., et al. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. CORD Conference Proceedings. Am J Hum Genet 2010, 86(2):213-221.
    • (2010) Am J Hum Genet , vol.86 , Issue.2 , pp. 213-221
    • Bolduc, V.1    Marlow, G.2    Boycott, K.M.3
  • 46
    • 62349118903 scopus 로고    scopus 로고
    • Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
    • Vuillaumier-Barrot S., Quijano-Roy S., Bouchet-Seraphin C., et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord 2009, 19(3):182-188.
    • (2009) Neuromuscul Disord , vol.19 , Issue.3 , pp. 182-188
    • Vuillaumier-Barrot, S.1    Quijano-Roy, S.2    Bouchet-Seraphin, C.3
  • 47
    • 33845292617 scopus 로고    scopus 로고
    • Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
    • Godfrey C., Escolar D., Brockington M., et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006, 60(5):603-610.
    • (2006) Ann Neurol , vol.60 , Issue.5 , pp. 603-610
    • Godfrey, C.1    Escolar, D.2    Brockington, M.3
  • 48
    • 67349114002 scopus 로고    scopus 로고
    • Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. CORD conference proceedings
    • Puckett R.L., Moore S.A., Winder T.L., et al. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. CORD conference proceedings. Neuromuscul Disord 2009, 19(5):352-356.
    • (2009) Neuromuscul Disord , vol.19 , Issue.5 , pp. 352-356
    • Puckett, R.L.1    Moore, S.A.2    Winder, T.L.3
  • 49
    • 0035846620 scopus 로고    scopus 로고
    • Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients
    • Gallardo E., Rojas-García R., de Luna N., et al. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57(11):2136-2138.
    • (2001) Neurology , vol.57 , Issue.11 , pp. 2136-2138
    • Gallardo, E.1    Rojas-García, R.2    de Luna, N.3
  • 50
    • 10544230641 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy
    • Pegoraro E., Cianno B.D., Hoffman E.P., et al. Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996, 40(5):782-791.
    • (1996) Ann Neurol , vol.40 , Issue.5 , pp. 782-791
    • Pegoraro, E.1    Cianno, B.D.2    Hoffman, E.P.3
  • 51
    • 80055068583 scopus 로고    scopus 로고
    • Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
    • Piluso G., Dionisi M., Del Vecchio Blanco F., et al. Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. Clin Chem 2011, 57(11):1584-1596.
    • (2011) Clin Chem , vol.57 , Issue.11 , pp. 1584-1596
    • Piluso, G.1    Dionisi, M.2    Del Vecchio Blanco, F.3
  • 52
    • 0034882438 scopus 로고    scopus 로고
    • Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
    • Flanigan K.M., Coffeen C.M., Sexton L., et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001, 11(6-7):525-529.
    • (2001) Neuromuscul Disord , vol.11 , Issue.6-7 , pp. 525-529
    • Flanigan, K.M.1    Coffeen, C.M.2    Sexton, L.3
  • 53
    • 0028801374 scopus 로고
    • Profiles of neuromuscular diseases. facioscapulohumeral muscular dystrophy
    • Kilmer D.D., Abresch R.T., McCrory M.A., et al. Profiles of neuromuscular diseases. facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 1995, 74(Suppl 5):S131-S139.
    • (1995) Am J Phys Med Rehabil , vol.74 , Issue.SUPPL. 5
    • Kilmer, D.D.1    Abresch, R.T.2    McCrory, M.A.3
  • 54
    • 0025836092 scopus 로고
    • Genetic counselling in facioscapulohumeral muscular dystrophy
    • Lunt P.W., Harper P.S. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 1991, 28(10):655-664.
    • (1991) J Med Genet , vol.28 , Issue.10 , pp. 655-664
    • Lunt, P.W.1    Harper, P.S.2
  • 55
    • 0034705182 scopus 로고
    • FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy
    • Felice K.J., North W.A., Moore S.A., et al. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 1927, 54(10):1927-1931.
    • (1927) Neurology , vol.54 , Issue.10 , pp. 1927-1931
    • Felice, K.J.1    North, W.A.2    Moore, S.A.3
  • 56
    • 79959908300 scopus 로고    scopus 로고
    • Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
    • Jordan B., Eger K., Koesling S., et al. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol 2011, 258(5):866-873.
    • (2011) J Neurol , vol.258 , Issue.5 , pp. 866-873
    • Jordan, B.1    Eger, K.2    Koesling, S.3
  • 57
    • 17844393135 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study
    • Sposito R., Pasquali L., Galluzzi F., et al. Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. Genet Test 2005, 9(1):30-36.
    • (2005) Genet Test , vol.9 , Issue.1 , pp. 30-36
    • Sposito, R.1    Pasquali, L.2    Galluzzi, F.3
  • 58
    • 0030052273 scopus 로고    scopus 로고
    • Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases
    • Bakker E., Van der Wielen M.J., Voorhoeve E., et al. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 1996, 33(1):29-35.
    • (1996) J Med Genet , vol.33 , Issue.1 , pp. 29-35
    • Bakker, E.1    Van der Wielen, M.J.2    Voorhoeve, E.3
  • 59
    • 0028833769 scopus 로고
    • High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
    • Zatz M., Marie S.K., Passos-Bueno M.R., et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995, 56(1):99-105.
    • (1995) Am J Hum Genet , vol.56 , Issue.1 , pp. 99-105
    • Zatz, M.1    Marie, S.K.2    Passos-Bueno, M.R.3
  • 60
    • 78149236255 scopus 로고    scopus 로고
    • Clinical features of facioscapulohumeral muscular dystrophy 2
    • de Greef J.C., Lemmers R.J., Camaño P., et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010, 75(17):1548-1554.
    • (2010) Neurology , vol.75 , Issue.17 , pp. 1548-1554
    • de Greef, J.C.1    Lemmers, R.J.2    Camaño, P.3
  • 61
    • 77957327192 scopus 로고    scopus 로고
    • A unifying genetic model for facioscapulohumeral muscular dystrophy
    • Lemmers R.J., van der Vliet P.J., Klooster R., et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329(5999):1650-1653.
    • (2010) Science , vol.329 , Issue.5999 , pp. 1650-1653
    • Lemmers, R.J.1    van der Vliet, P.J.2    Klooster, R.3
  • 62
    • 84863450530 scopus 로고    scopus 로고
    • RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy
    • [Epub ahead of print]
    • Wallace L.M., Liu J., Domire J.S., et al. RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther 2012, [Epub ahead of print]. 10.1038/mt.2012.68.
    • (2012) Mol Ther
    • Wallace, L.M.1    Liu, J.2    Domire, J.S.3
  • 63
    • 0028915818 scopus 로고
    • The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
    • Brais B., Xie Y.G., Sanson M., et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995, 4(3):429-434.
    • (1995) Hum Mol Genet , vol.4 , Issue.3 , pp. 429-434
    • Brais, B.1    Xie, Y.G.2    Sanson, M.3
  • 64
    • 0018865908 scopus 로고
    • Nuclear inclusions in oculopharyngeal dystrophy
    • Tome F.M., Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980, 49(1):85-87.
    • (1980) Acta Neuropathol , vol.49 , Issue.1 , pp. 85-87
    • Tome, F.M.1    Fardeau, M.2
  • 65
    • 0025270390 scopus 로고
    • Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophy
    • Bialer M.G., Bruns D.E., Kelly T.E. Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophy. Clin Chem 1990, 36(3):427-430.
    • (1990) Clin Chem , vol.36 , Issue.3 , pp. 427-430
    • Bialer, M.G.1    Bruns, D.E.2    Kelly, T.E.3
  • 66
    • 0033125723 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy mutation database
    • Yates J.R., Wehnert M. The Emery-Dreifuss muscular dystrophy mutation database. Neuromuscul Disord 1999, 9(3):199.
    • (1999) Neuromuscul Disord , vol.9 , Issue.3 , pp. 199
    • Yates, J.R.1    Wehnert, M.2
  • 67
    • 69749088309 scopus 로고    scopus 로고
    • Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
    • Gueneau L., Bertrand A.T., Jais J.P., et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009, 85(3):338-353.
    • (2009) Am J Hum Genet , vol.85 , Issue.3 , pp. 338-353
    • Gueneau, L.1    Bertrand, A.T.2    Jais, J.P.3
  • 68
    • 80051554264 scopus 로고    scopus 로고
    • Spinal muscular atrophy: a timely review
    • Kolb S.J., Kissel J.T. Spinal muscular atrophy: a timely review. Arch Neurol 2011, 68(8):979-984.
    • (2011) Arch Neurol , vol.68 , Issue.8 , pp. 979-984
    • Kolb, S.J.1    Kissel, J.T.2
  • 69
    • 0036368287 scopus 로고    scopus 로고
    • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    • Mailman M.D., Heinz J.W., Papp A.C., et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002, 4(1):20-26.
    • (2002) Genet Med , vol.4 , Issue.1 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3
  • 70
    • 70349338716 scopus 로고    scopus 로고
    • An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy
    • Elsheikh B., Prior T., Zhang X., et al. An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve 2009, 40(4):652-656.
    • (2009) Muscle Nerve , vol.40 , Issue.4 , pp. 652-656
    • Elsheikh, B.1    Prior, T.2    Zhang, X.3
  • 72
    • 0035086824 scopus 로고    scopus 로고
    • Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals
    • Kuhlenbaumer G., Kress W., Ringelstein E.B., et al. Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. J Neurol 2001, 248(1):23-26.
    • (2001) J Neurol , vol.248 , Issue.1 , pp. 23-26
    • Kuhlenbaumer, G.1    Kress, W.2    Ringelstein, E.B.3
  • 73
    • 0034574407 scopus 로고    scopus 로고
    • El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
    • World Federation of Neurology Research Group on Motor Neuron D
    • Brooks B.R., Miller R.G., Swash M., et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000, 1(5):293-299. World Federation of Neurology Research Group on Motor Neuron D.
    • (2000) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.1 , Issue.5 , pp. 293-299
    • Brooks, B.R.1    Miller, R.G.2    Swash, M.3
  • 74
    • 39049153337 scopus 로고    scopus 로고
    • Electrodiagnostic criteria for diagnosis of ALS
    • de Carvalho M., Dengler R., Eisen A., et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008, 119(3):497-503.
    • (2008) Clin Neurophysiol , vol.119 , Issue.3 , pp. 497-503
    • de Carvalho, M.1    Dengler, R.2    Eisen, A.3
  • 75
    • 0030749160 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
    • Andersen P.M., Nilsson P., Keränen M.L., et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997, 120(10):1723-1737.
    • (1997) Brain , vol.120 , Issue.10 , pp. 1723-1737
    • Andersen, P.M.1    Nilsson, P.2    Keränen, M.L.3
  • 76
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton A.E., Majounie E., Waite A., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72(2):257-268.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 77
    • 42649120983 scopus 로고    scopus 로고
    • TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    • Kabashi E., Valdmanis P.N., Dion P., et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008, 40(5):572-574.
    • (2008) Nat Genet , vol.40 , Issue.5 , pp. 572-574
    • Kabashi, E.1    Valdmanis, P.N.2    Dion, P.3
  • 78
    • 79952900483 scopus 로고    scopus 로고
    • FUS mutations in sporadic amyotrophic lateral sclerosis
    • [Epub 2010 Feb 6]
    • Lai S.L., Abramzon Y., Schymick J.C., et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011, 32(3):550.e1-550.e4. [Epub 2010 Feb 6].
    • (2011) Neurobiol Aging , vol.32 , Issue.3
    • Lai, S.L.1    Abramzon, Y.2    Schymick, J.C.3
  • 79
    • 33645422711 scopus 로고    scopus 로고
    • ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
    • Greenway M.J., Andersen P.M., Russ C., et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006, 38(4):411-413.
    • (2006) Nat Genet , vol.38 , Issue.4 , pp. 411-413
    • Greenway, M.J.1    Andersen, P.M.2    Russ, C.3
  • 80
    • 76949089455 scopus 로고    scopus 로고
    • Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
    • Xiong H.L., Wang J.Y., Sun Y.M., et al. Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. BMC Med Genet 2010, 11(1):8.
    • (2010) BMC Med Genet , vol.11 , Issue.1 , pp. 8
    • Xiong, H.L.1    Wang, J.Y.2    Sun, Y.M.3
  • 81
    • 62549146705 scopus 로고    scopus 로고
    • A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
    • Zhao Z.H., Chen W.Z., Wu Z.Y., et al. A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009, 10(2):118-122.
    • (2009) Amyotroph Lateral Scler , vol.10 , Issue.2 , pp. 118-122
    • Zhao, Z.H.1    Chen, W.Z.2    Wu, Z.Y.3
  • 82
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M., Mackenzie Ian R., Boeve B.F., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72(2):245-256.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 245-256
    • DeJesus-Hernandez, M.1    Mackenzie Ian, R.2    Boeve, B.F.3
  • 83
    • 84856343171 scopus 로고    scopus 로고
    • Current status of the congenital myasthenic syndromes
    • Engel A.G. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012, 22(2):99-111.
    • (2012) Neuromuscul Disord , vol.22 , Issue.2 , pp. 99-111
    • Engel, A.G.1
  • 84
    • 84875631775 scopus 로고    scopus 로고
    • Genetests-Geneclinics home page. Seattle (WA): University of Washington. Available at. Accessed March 22
    • Genetests-Geneclinics home page. Seattle (WA): University of Washington. Available at: . Accessed March 22, 2012. http://www.ncbi.nlm.nih.gov/projects/GeneTests/static/about/aboutindex.shtml.
    • (2012)
  • 85
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski J.R., Reid J.G., Gonzaga-Jauregui C., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010, 362(13):1181-1191.
    • (2010) N Engl J Med , vol.362 , Issue.13 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.