Disease-gene associations mined from literature

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 ...