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

Skeletal Muscle

Table 1 Muscle biopsies obtained from various neuromuscular dystrophies.

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

ISSN: 2044-5040