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Metadata
ID DOID:0110929
Name nemaline myopathy 9
Definition A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
https://www.ncbi.nlm.nih.gov/pubmed/24268659
Xrefs

OMIM:615731

Synonyms

NEM9 [EXACT]

Parent Relationships

is_a nemaline myopathy

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