Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26/09/2005
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
Gene product
Name adenosine monophosphate deaminase 1 (muscle)
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
unknown     Q12X and P48L are major mutations