You are using an outdated browser. Please upgrade your browser to improve your experience.

centronuclear myopathy

Disease Summary
Associated Targets (18)
Tbio

13

Tchem

3

Tclin

2


GARD Rare
Mondo Description Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Disease Ontology Description A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
Mondo Term and Equivalent IDs
MONDO:0018947:  centronuclear myopathy
GARD:0000101: 
OMIMPS:160150: 
Orphanet:595: 
SCTID:82077006: 
UMLS:C0175709: