Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 05-03-2010

Symbol	MMD3
Location	11p14.3
Name	Miyoshi myopathy 3
Corresponding gene	ANO5
Main clinical features	distal myopathy hypertrophy, and distal weakness, of calf muscles in particular, and membrane repair capability was found to be defective in patient fibroblasts
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	including forms with onset in the third decade; first symptoms were burning sensation on the calves and later on calf tightness during running, with asymmetric muscle weakness and early involving the calf muscles, later spread to the thigh muscles (PMID: 20692837

Remark(s)