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Metadata
ID DOID:0111221
Name centronuclear myopathy 6 with fiber-type disproportion
Definition A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1.
https://www.ncbi.nlm.nih.gov/pubmed/27816943
Xrefs

OMIM:617760

Synonyms

CNM6 [EXACT]

Parent Relationships

is_a congenital fiber-type disproportion

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