Gene | Protein product | Old nomenclature | New nomenclature and reason for exclusion from reformed LGMD classification system[1] |
Autosomal dominant | |||
MYOT | Myotilin | LGMD1A | Myofibrillar myopathy Distal weakness |
LMNA | Lamin A/C | LGMD1B | Emery-Dreifuss muscular dystrophy (EDMD) High risk of cardiac arrhythmias; EDMD phenotype |
CAV3 | Caveolin 3 | LGMD1C | Rippling muscle disease Main clinical features rippling muscle disease and myalgia |
DES | Desmin | LGMD1E | Myofibrillar myopathy Primarily false linkage; distal weakness and cardiomyopathy |
Autosomal recessive | |||
DES | Desmin | LGMD2R | Myofibrillar myopathy Distal weakness |
GAA | Acid alpha-glucosidase | LGMD2V | Pompe disease Known entity, histological changes |
LIMS2 | LIM zinc finger domain containing 2 | LGMD2W | LIMS2-related myopathy Reported in only one family |
BVES | Blood vessel epicardial substance | LGMD2X | BVES-related myopathy Reported in only one family |
TOR1AIP1 | Torsin 1A interacting protein 1 | LGMD2Y | TOR1AIP1-related myopathy Reported in only one family |
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