Human genes for myofibrillar myopathy 8
Myofibrillar myopathy 8 [DOID:0080308]
A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
Synonyms: myofibrillar myopathy 8, DOID:0080308