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autosomal recessive centronuclear myopathy

Disease Summary
Associated Targets (16)
Tbio

12

Tclin

2

Tchem

2


GARD Rare
Mondo Description Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Mondo Term and Equivalent IDs
MONDO:0015705:  autosomal recessive centronuclear myopathy
DOID:0111216: 
GARD:0012718: 
Orphanet:169186: 
SCTID:240081004: 
UMLS:C3645536: