myofibrillar myopathy 8

Term ID

DOID:0080308

Synonyms

Definition

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. https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy

References

• MIM:617258

Ontology

Human Disease   ( DOID:0080308 )