Autosomal dominant nebulin-related myopathy

Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance.

Also known as: autosomal dominant nebulin-related myopathy

4 clinical trials for this condition and its sub-types, 0 tagged with Autosomal dominant nebulin-related myopathy itself.