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Volumn 29, Issue 5, 2016, Pages 635-641

Limb girdle muscular dystrophies: Classification, clinical spectrum and emerging therapies

Author keywords

Classification; Limb girdle muscular dystrophy; Therapy

Indexed keywords

CLINICAL FEATURE; DISEASE CLASSIFICATION; DISTAL MYOPATHY; HEART DISEASE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLIC DISORDER; MUSCLE METABOLISM; MYOGLOBINURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CARE; PHENOTYPE; REVIEW; CLASSIFICATION; GENOTYPE; SYMPTOM ASSESSMENT;

EID: 84982859364     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000375     Document Type: Review
Times cited : (58)

References (44)
  • 1
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954; 77:169-231.
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 2
    • 18144383891 scopus 로고    scopus 로고
    • LGMD2I presenting with a characteristic Duchenne or Becker dystrophy phenotype
    • Schwartz M, Hertz JM, Sveen ML, Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker dystrophy phenotype. Neurology 2005; 64:1635-1637.
    • (2005) Neurology , vol.64 , pp. 1635-1637
    • Schwartz, M.1    Hertz, J.M.2    Sveen, M.L.3    Vissing, J.4
  • 3
    • 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; 81:27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3
  • 4
    • 20344386015 scopus 로고    scopus 로고
    • Calpains and disease
    • Zatz M, Starling A. Calpains and disease. N Engl J Med 2005; 352:2413-2423.
    • (2005) N Engl J Med , vol.352 , pp. 2413-2423
    • Zatz, M.1    Starling, A.2
  • 5
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
    • Norwood FL, Harling C, Chinnery PF, et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009; 132:3175-3186.
    • (2009) Brain , vol.132 , pp. 3175-3186
    • Norwood, F.L.1    Harling, C.2    Chinnery, P.F.3
  • 6
    • 38949205725 scopus 로고    scopus 로고
    • Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
    • Guglieri M, Magri F, D'Angelo MG, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008; 29:258-266.
    • (2008) Hum Mutat , vol.29 , pp. 258-266
    • Guglieri, M.1    Magri, F.2    D'Angelo, M.G.3
  • 7
    • 33646353390 scopus 로고    scopus 로고
    • High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    • Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006; 59:808-815.
    • (2006) Ann Neurol , vol.59 , pp. 808-815
    • Sveen, M.L.1    Schwartz, M.2    Vissing, J.3
  • 8
    • 48249142795 scopus 로고    scopus 로고
    • CDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
    • Duno M, Sveen ML, Schwartz M, Vissing J. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Eur J Hum Genet 2008; 16:935-940.
    • (2008) Eur J Hum Genet , vol.16 , pp. 935-940
    • Duno, M.1    Sveen, M.L.2    Schwartz, M.3    Vissing, J.4
  • 9
    • 0346849960 scopus 로고    scopus 로고
    • Phenotype and sarcoglycan expression in Tunisian LGMD2C patients sharing the same del521-T mutation
    • Kefi M, Amouri R, Driss A, et al. Phenotype and sarcoglycan expression in Tunisian LGMD2C patients sharing the same del521-T mutation. Neuromuscul Disord 2003; 13:779-787.
    • (2003) Neuromuscul Disord , vol.13 , pp. 779-787
    • Kefi, M.1    Amouri, R.2    Driss, A.3
  • 10
    • 77952536041 scopus 로고    scopus 로고
    • C283Y mutation in the gammasarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy
    • Spangos K, Walter MC, Dekomien G, et al. C283Y mutation in the gammasarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. Eur J Neurol 2010; 17:e41-e42.
    • (2010) Eur J Neurol , vol.17 , pp. e41-e42
    • Spangos, K.1    Walter, M.C.2    Dekomien, G.3
  • 11
    • 78649796969 scopus 로고    scopus 로고
    • Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
    • Gundesli H, Talim B, Korkusuz P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-841.
    • (2010) Am J Hum Genet , vol.87 , pp. 834-841
    • Gundesli, H.1    Talim, B.2    Korkusuz, P.3
  • 12
    • 79952391340 scopus 로고    scopus 로고
    • A dystroglycan mutation associated with limb-girdle muscular dystrophy
    • Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011; 364:939-946.
    • (2011) N Engl J Med , vol.364 , pp. 939-946
    • Hara, Y.1    Balci-Hayta, B.2    Yoshida-Moriguchi, T.3
  • 13
    • 0034284682 scopus 로고    scopus 로고
    • 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
  • 14
    • 84900308518 scopus 로고    scopus 로고
    • A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of (-dystroglycan glycosylation
    • Saredi S, Gibertini S, Ardissone A, et al. A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of (-dystroglycan glycosylation. Eur J Paediatr Neurol 2014; 18:404-408.
    • (2014) Eur J Paediatr Neurol , vol.18 , pp. 404-408
    • Saredi, S.1    Gibertini, S.2    Ardissone, A.3
  • 15
    • 80054852789 scopus 로고    scopus 로고
    • Clinical and molecular characterization of limb girdle muscular dystrophy due to LAMA2 mutations
    • Gavassini BF, Carboni N, Nielsen JE, et al. Clinical and molecular characterization of limb girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve 2011; 44:703-709.
    • (2011) Muscle Nerve , vol.44 , pp. 703-709
    • Gavassini, B.F.1    Carboni, N.2    Nielsen, J.E.3
  • 16
    • 84942192634 scopus 로고    scopus 로고
    • LAMA2-related myopathy; Frequency among congenital and limb-girdle muscular dystrophies
    • Løkken N, Born AP, Duno M, Vissing J. LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve 2015; 52:547-553.
    • (2015) Muscle Nerve , vol.52 , pp. 547-553
    • Løkken, N.1    Born, A.P.2    Duno, M.3    Vissing, J.4
  • 17
    • 84858285195 scopus 로고    scopus 로고
    • Episodes of exercise-induced dark urine and myalgia in LGMD 2I
    • Lindberg C, Sixt C, Oldfors A. Episodes of exercise-induced dark urine and myalgia in LGMD 2I. Acta Neurol Scand 2012; 125:285-287.
    • (2012) Acta Neurol Scand , vol.125 , pp. 285-287
    • Lindberg, C.1    Sixt, C.2    Oldfors, A.3
  • 18
    • 84921813611 scopus 로고    scopus 로고
    • Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy
    • Dahlqvist JR, Vissing CR, Thomsen C, Vissing J. Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology 2014; 83:1178-1183.
    • (2014) Neurology , vol.83 , pp. 1178-1183
    • Dahlqvist, J.R.1    Vissing, C.R.2    Thomsen, C.3    Vissing, J.4
  • 19
    • 84881553837 scopus 로고    scopus 로고
    • Anoctamin 5 muscular dystrophy in Denmark; Genotype, phenotype, prevalence, cardiology and muscle protein expression
    • Witting N, Duno M, Petri H, et al. Anoctamin 5 muscular dystrophy in Denmark; genotype, phenotype, prevalence, cardiology and muscle protein expression. J Neurol 2013; 260:2084-2093.
    • (2013) J Neurol , vol.260 , pp. 2084-2093
    • Witting, N.1    Duno, M.2    Petri, H.3
  • 20
    • 84866294123 scopus 로고    scopus 로고
    • Muscle MRI findings in limb girdle muscular dystrophy type 2L
    • Sarkozy A, Deschauer M, Carlier RY, et al. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012; 22 (Suppl 2):S122-S129.
    • (2012) Neuromuscul Disord , vol.22 , pp. S122-S129
    • Sarkozy, A.1    Deschauer, M.2    Carlier, R.Y.3
  • 21
    • 84982958280 scopus 로고    scopus 로고
    • A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
    • Vissing J, Barresi R, Witting N, et al. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain 2016; 139:2154-2163.
    • (2016) Brain , vol.139 , pp. 2154-2163
    • Vissing, J.1    Barresi, R.2    Witting, N.3
  • 22
    • 13444302401 scopus 로고    scopus 로고
    • Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
    • Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005; 15:164-171.
    • (2005) Neuromuscul Disord , vol.15 , pp. 164-171
    • Mercuri, E.1    Bushby, K.2    Ricci, E.3
  • 23
    • 77955159118 scopus 로고    scopus 로고
    • Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
    • Paradas C, Llauger J, Diaz-Manera J, et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010; 75:316-323.
    • (2010) Neurology , vol.75 , pp. 316-323
    • Paradas, C.1    Llauger, J.2    Diaz-Manera, J.3
  • 24
    • 26044435388 scopus 로고    scopus 로고
    • Myotilinopathy: Refining the clinical and myopathological phenotype
    • Olivé M, Goldfarb LG, Shatunov A, et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005; 128 (Pt 10):2315-2326.
    • (2005) Brain , vol.128 , pp. 2315-2326
    • Olivé, M.1    Goldfarb, L.G.2    Shatunov, A.3
  • 25
    • 84964680361 scopus 로고    scopus 로고
    • Axial myopathy: An overlooked feature of myopathies
    • Witting N, Andersen LK, Vissing J. Axial myopathy: an overlooked feature of myopathies. Brain 2016; 139 (Pt 1):13-22.
    • (2016) Brain , vol.139 , pp. 13-22
    • Witting, N.1    Andersen, L.K.2    Vissing, J.3
  • 26
    • 84881527343 scopus 로고    scopus 로고
    • Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: A multicentre longitudinal study
    • Willis TA, Hollingsworth KG, Coombs A, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One 2013; 8:e70993.
    • (2013) PLoS One , vol.8 , pp. e70993
    • Willis, T.A.1    Hollingsworth, K.G.2    Coombs, A.3
  • 27
    • 84871194305 scopus 로고    scopus 로고
    • Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies
    • ten Dam L, van der Kooi AJ, van Wattingen M, et al. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology 2012; 79:1716-1723.
    • (2012) Neurology , vol.79 , pp. 1716-1723
    • Ten Dam, L.1    Van Der Kooi, A.J.2    Van Wattingen, M.3
  • 28
    • 84929094421 scopus 로고    scopus 로고
    • Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
    • Semplicini C, Vissing J, Dahlqvist JR, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology 2015; 84:1772-1781.
    • (2015) Neurology , vol.84 , pp. 1772-1781
    • Semplicini, C.1    Vissing, J.2    Dahlqvist, J.R.3
  • 29
    • 84896504852 scopus 로고    scopus 로고
    • Resonance imaging in limbgirdle muscular dystrophy 2I: A multinational cross-sectional study
    • Willis TA, Hollingsworth KG, Coombs A, et al. Resonance imaging in limbgirdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS One 2014; 9:e90377.
    • (2014) PLoS One , vol.9 , pp. e90377
    • Willis, T.A.1    Hollingsworth, K.G.2    Coombs, A.3
  • 30
    • 84942194576 scopus 로고    scopus 로고
    • Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance
    • Quick S, Schaefer J, Waessnig N, et al. Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance. Muscle Nerve 2015; 52:661-663.
    • (2015) Muscle Nerve , vol.52 , pp. 661-663
    • Quick, S.1    Schaefer, J.2    Waessnig, N.3
  • 31
    • 51649084872 scopus 로고    scopus 로고
    • Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
    • Sveen ML, Thune JJ, Køber L, Vissing J. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. Arch Neurol 2008; 65:1196-1201.
    • (2008) Arch Neurol , vol.65 , pp. 1196-1201
    • Sveen, M.L.1    Thune, J.J.2    Køber, L.3    Vissing, J.4
  • 32
    • 84953344503 scopus 로고    scopus 로고
    • Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: A 9-year follow-up study
    • Petri H, Sveen ML, Thune JJ, et al. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. Int J Cardiol 2015; 182:403-411.
    • (2015) Int J Cardiol , vol.182 , pp. 403-411
    • Petri, H.1    Sveen, M.L.2    Thune, J.J.3
  • 33
    • 84884669962 scopus 로고    scopus 로고
    • Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders
    • Anselme F, Moubarak G, Savouré A, et al. Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders. Heart Rhythm 2013; 10:1492-1498.
    • (2013) Heart Rhythm , vol.10 , pp. 1492-1498
    • Anselme, F.1    Moubarak, G.2    Savouré, A.3
  • 34
    • 84902475003 scopus 로고    scopus 로고
    • Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency
    • Vissing CR, Preisler N, Husu E, et al. Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency. Muscle Nerve 2014; 50:119-123.
    • (2014) Muscle Nerve , vol.50 , pp. 119-123
    • Vissing, C.R.1    Preisler, N.2    Husu, E.3
  • 35
    • 33846094872 scopus 로고    scopus 로고
    • Endurance training: An effective and safe treatment for patients with LGMD2I
    • Sveen ML, Jeppesen TD, Hauerslev S, et al. Endurance training: An effective and safe treatment for patients with LGMD2I. Neurology 2007; 68:59-61.
    • (2007) Neurology , vol.68 , pp. 59-61
    • Sveen, M.L.1    Jeppesen, T.D.2    Hauerslev, S.3
  • 36
    • 84900991778 scopus 로고    scopus 로고
    • Antigravity training improves walking capacity and postural balance in patients with muscular dystrophy
    • Berthelsen MP, Husu E, Christensen SB, et al. Antigravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscul Disord 2014; 24:492-498.
    • (2014) Neuromuscul Disord , vol.24 , pp. 492-498
    • Berthelsen, M.P.1    Husu, E.2    Christensen, S.B.3
  • 37
    • 84873030828 scopus 로고    scopus 로고
    • Resistance training in patients with limb girdle and Becker muscular dystrophies
    • Sveen ML, Andersen SP, Ingelsrud LH, et al. Resistance training in patients with limb girdle and Becker muscular dystrophies. Muscle Nerve 2013; 47:163-169.
    • (2013) Muscle Nerve , vol.47 , pp. 163-169
    • Sveen, M.L.1    Andersen, S.P.2    Ingelsrud, L.H.3
  • 38
    • 84892173354 scopus 로고    scopus 로고
    • Creatine kinase response to highintensity aerobic exercise in adult-onset muscular dystrophy
    • Andersen SP, Sveen ML, Hansen RS, et al. Creatine kinase response to highintensity aerobic exercise in adult-onset muscular dystrophy. Muscle Nerve 2013; 48:897-901.
    • (2013) Muscle Nerve , vol.48 , pp. 897-901
    • Andersen, S.P.1    Sveen, M.L.2    Hansen, R.S.3
  • 39
    • 62849108016 scopus 로고    scopus 로고
    • Inhibition ofmyostatinwithemphasis on follistatin as a therapy formuscle disease
    • Rodino-Klapac LR,Haidet AM,Kota J, et al Inhibition ofmyostatinwithemphasis on follistatin as a therapy formuscle disease.MuscleNerve2009 39:283-296.
    • (2009) MuscleNerve , vol.39 , pp. 283-296
    • Rodino-Klapac, L.R.1    Haidet, A.M.2    Kota, J.3
  • 40
    • 84873573109 scopus 로고    scopus 로고
    • Treatment of dysferlinopathy with deflazacort: A double-blind, placebo-controlled clinical trial
    • Walter MC, Reilich P, Thiele S, et al. Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis 2013; 8:26.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 26
    • Walter, M.C.1    Reilich, P.2    Thiele, S.3
  • 41
    • 35148838670 scopus 로고    scopus 로고
    • Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
    • Darin N, Kroksmark AK, Ahlander AC, et al. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol 2007; 11:353-357.
    • (2007) Eur J Paediatr Neurol , vol.11 , pp. 353-357
    • Darin, N.1    Kroksmark, A.K.2    Ahlander, A.C.3
  • 42
    • 78249253608 scopus 로고    scopus 로고
    • Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
    • Mendell JR, Rodino-Klapac LR, Rosales XQ, et al. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010; 68:629-638.
    • (2010) Ann Neurol , vol.68 , pp. 629-638
    • Mendell, J.R.1    Rodino-Klapac, L.R.2    Rosales, X.Q.3
  • 43
    • 84862487885 scopus 로고    scopus 로고
    • Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer
    • Grose WE, Clark KR, Griffin D, et al. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One 2012; 7:e39233.
    • (2012) PLoS One , vol.7 , pp. e39233
    • Grose, W.E.1    Clark, K.R.2    Griffin, D.3
  • 44
    • 84962054136 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophies: International collaborations for translational research
    • Thompson R, Straub V. Limb-girdle muscular dystrophies: international collaborations for translational research. Nat Rev Neurol 2016; 12:294-309.
    • (2016) Nat Rev Neurol , vol.12 , pp. 294-309
    • Thompson, R.1    Straub, V.2


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