Metadata | |
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ID | DOID:0111221 |
Name | centronuclear myopathy 6 with fiber-type disproportion |
Definition | An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/27816943 |
Xrefs | |
Synonyms |
CNM6 [EXACT] |
Parent Relationships |