Human genes for nemaline myopathy 8
Nemaline myopathy 8 [DOID:0110930]
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.
Synonyms: nemaline myopathy 8, DOID:0110930, NEM8, nemaline myopathy 8, autosomal recessive, autosomal recessive nemaline myopathy 8 ...