Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Abstract

Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this condition to chromosome Xq13.1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mutated in patients with Menkes disease, a… (More)
DOI: 10.1016/j.ajhg.2010.01.027

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