myopathy
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
First missense mutations (R388W and R425H) of <span class="gene" id="11102975-0-46-51">AMPD1</span> accompanied with <span class="disease" id="11102975-0-69-77">myopathy</span> found in a Japanese patient.