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First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
Hum Mutat. 2000 Dec;16(6):467-72. doi: 10.1002/1098-1004(200012)16:6<467::AID-HUMU3>3.0.CO;2-V.
Hum Mutat. 2000.
PMID: 11102975
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M.
Abe M, et al.
Neuromuscul Disord. 2000 Oct;10(7):472-7. doi: 10.1016/s0960-8966(00)00127-9.
Neuromuscul Disord. 2000.
PMID: 10996775
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