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Human Disease

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
Ontology
Human Disease   ( DOID:0081352 )
Relationships
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Genes Involved
Zebrafish Models