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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0206157|nemaline myopathy
Sentences 2
PubMedID- 23671309 Mutations in nebulin are responsible for nemaline myopathy, a group of congenital muscle disorders characterized by generalized muscle weakness and rod-like nemaline bodies in myofibers (wallgren-pettersson et al., 2011).
PubMedID- 22188717 The complication of dilated cardiomyopathy in nemaline myopathy has rarely been reported.

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