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Human Disease

nemaline myopathy 8

Term ID
DOID:0110930
Synonyms
  • NEM8
  • nemaline myopathy 8, autosomal recessive
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
References
Ontology
Human Disease   ( DOID:0110930 )
Relationships
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Genes Involved
Zebrafish Models