Biallelic Variants in SNUPN Cause a Limb Girdle Muscular Dystrophy with Myofibrillar-like Features

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Genetics,
SNUPN gene   small nuclear ribonucleoproteins   splicing   myopathy   limb girdle muscular dystrophy  

Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...