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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
Author(s) -
Merner ND,
Dion PA,
Rouleau GA
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01591.x
Subject(s) - neuroscience , motor neuron , mechanism (biology) , disease , menkes disease , biology , atp7a , genetics , medicine , gene , pathology , copper metabolism , chemistry , copper , transporter , spinal cord , physics , quantum mechanics , organic chemistry
Merner ND, Dion PA, Rouleau GA. 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. 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 homeostasis. Functionally, diverse proteins were previously shown to underlie dHMN and a convergent link is destined to unfold for some of these. We propose connections between copper and known dHMN genes that overlap also with the causative genes of other motor neuron disorders (MNDs).