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Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophiesNARA Subscribed
Background Muscular dystrophies are a group of inherited neuromuscular disorders characterized by degenerative and progressive muscle weakness. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and merosin-deficient congenital muscular dystrophy type 1 (MDC1A) are frequent forms caused by DMD (NM_004006.3) and LAMA2 (NM_000426.4) mutations, respectively. Methods and results Our study used whole exome sequencin...
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