congenital myopathy 20

Term ID

DOID:0081352

Synonyms

Definition

A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. (2)

References

• MIM:620310

Ontology

Human Disease   ( DOID:0081352 )