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

• OMIM:615348

Ontology

Human Disease   ( DOID:0110930 )