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SNP information rs35859650

RS35859650

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...

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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