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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002921
congenital structural myopathy
is_a
autosomal dominant nebulin-related myopathy
exact