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GENATLAS PHENOTYPE |
last update : 01- 02-2022 |
Symbol | AMS1 |
Location | 15q26.1 |
Name | ataxia-myopathy syndrome 1 |
Other name(s) | mitochondrial recessive ataxia syndrome |
Corresponding gene | POLG |
Other symbol(s) | MIRAS |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
neuromuscular | |
Type | disease |
Gene product |
Name | polymerase (DNA directed), gamma |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|  
|  
| W748S mutation
| |
Remark(s) |