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Metadata
ID DOID:0110934
Name nemaline myopathy 7
Definition A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
https://www.ncbi.nlm.nih.gov/pubmed/17160903, https://www.ncbi.nlm.nih.gov/pubmed/22560515
Xrefs

MESH:C565198

OMIM:610687

Synonyms

NEM7 [EXACT]

nemaline myopathy 7, autosomal recessive [EXACT]

Parent Relationships

is_a nemaline myopathy

is_a autosomal recessive disease

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