Symbol
| AMPD1
|
Location
| 1p13
|
Name
|
myopathy due to myoadenylate deaminase deficiency |
Corresponding gene
|
AMPD1
|
Main clinical features
|
exercise-induced, non-progressive with muscle weakness and/or post exertional cramping and variability in clinical symptom (variations in splicing ) |
Genetic determination
| autosomal dominant |
| autosomal recessive |
Function/system disorder
| neuromuscular |
Type
| disease
|
Name
| adenosine monophosphate deaminase 1 (muscle)
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
unknown
|  
|  
| Q12X and P48L are major mutations
| |