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Up to: Autosomal dominant disease · Congenital structural myopathy

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.

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This condition has no sub-types.