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Metadata
ID DOID:0110930
Name nemaline myopathy 8
Definition A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.
https://www.ncbi.nlm.nih.gov/pubmed/23746549
Xrefs

OMIM:615348

Synonyms

NEM8 [EXACT]

nemaline myopathy 8, autosomal recessive [EXACT]

Parent Relationships

is_a nemaline myopathy

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