Article
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Nature reviews. Molecular cell biology - 1 Nov 2021
Dowling James J, Weihl Conrad C, Spencer Melissa J
Abstract excerpt
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise from defects in the structure and/or function of the muscle tissue - encompassing the muscle cells (myofibres) themselves and their extracellular matrix - or muscle fibre innervation. Since the identification in 1987 of the first genetic lesion associated with a neuromuscular disorder - mutations in dystrophin as an underlying...
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