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Metadata
ID DOID:0110928
Name nemaline myopathy 2
Definition A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
https://www.ncbi.nlm.nih.gov/pubmed/10051637, https://www.ncbi.nlm.nih.gov/pubmed/15221447
Xrefs

OMIM:256030

Synonyms

NEM2 [EXACT]

nemaline myopathy 2, autosomal recessive [EXACT]

Parent Relationships

is_a nemaline myopathy

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