New Developments in Molecular Diagnosis of Neuromuscular Disorders
نویسندگان
چکیده
Neuromuscular disorders (NMDs) are a group of genetic disorders that affect the peripheral nervous system and muscle, consequently leading to a significant disability in children as well as in adults. NMDs include more than 200 monogenic disorders with a total incidence exceeding 1 in 3,000 [1]. Some of the more extreme diseases in the spectrum include amyotrophic lateral sclerosis (ALS), congenital muscular dystrophies and myopathies, Duchenne Muscular Dystrophy (DMD) and spinal muscular atrophy (SMA).
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