Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
MYOT
myotilin


5q31
* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.11, 4.9, 5.6, 5.7)
* Spheroid body myopathy - (1.11, 4.9, 5.6, 5.7)
* Myofibrillar myopathy, myotilin related - MFM3 (1.11, 4.9, 5.6, 5.7)