Article
Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.
Clinical genetics - 1 Jan 2011
Merner N D, Dion P A, Rouleau G A
Abstract excerpt
Distal hereditary motor neuropathy (dHMN) is a sub-group of Charcot-Marie-Tooth disease (CMT), the most common peripheral neuropathy, that affects only motor neurons. The recent observation of ATP7A mutations in dHMN provides insight for a common disease mechanism that may involve copper homeosta...
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