distal myopathy 1

Term ID

DOID:0070197

Synonyms

• Distal myopathy type 1
• Gowers disease
• Laing distal myopathy
• Laing early-onset distal myopathy
• MPD1

Definition

A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (2)

References

• GARD:10769
• OMIM:160500
• ORDO:59135

Ontology

Human Disease   ( DOID:0070197 )