Title : A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Pub. Date : 2012 Dec 7

PMID : 23141294






1 Functional Relationships(s)
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1 More importantly, DHTKD1 silencing was found to lead to impaired energy production, evidenced by decreased ATP, total NAD(+) and NADH, and NADH levels. Adenosine Triphosphate dehydrogenase E1 and transketolase domain containing 1 Homo sapiens