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Metadata
ID DOID:0111224
Name centronuclear myopathy 4
Definition An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/22818856
Xrefs

OMIM:614807

Synonyms

CNM4 [EXACT]

Parent Relationships

is_a autosomal dominant centronuclear myopathy

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