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Table 1 Muscle biopsies obtained from various neuromuscular dystrophies.

From: Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Name Disease Genetic defect Donor muscle Age
CTRL None None Semitendinosus 25 years
CMD Congenital muscular dystrophy 2345G > T; nesprin-1 gene Paravetrebral 16 years
DMD Duchenne muscular dystrophy Deletion of exon 48-50; dystrophin gene Quadriceps 20 months
FSHD Fascioscapulohumeral muscular dystrophy 2 D4Z4 contraction Subscapularis 27 years
LGMD2B Limb-girdle muscular dystrophy type 2B 1448C > A and 107T > A; dysferlin gene Quadriceps 40 years
OPMD Oculopharyngeal muscular dystrophy Expansion (GCG)9-(GCG)6; PABPN1 gene Cricopharyngeal 60 years