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Normal allele: GG
Myoadenylate deaminase deficiency is associated with myopathy, with progressive muscle weakness and atrophy.
Polymorphism rs35859650 is related to topics like this:
Mitochondria dna The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...
The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...
Research and publications:
10996775 Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
11102975 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
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