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

Xu, Wang-Yang

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. [electronic resource] - American journal of human genetics Dec 2012 - 1088-94 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2012.09.018 doi


Amino Acid Sequence
Asian People--genetics
Base Sequence
Charcot-Marie-Tooth Disease--diagnosis
China
Codon, Nonsense
Exons
Female
Gene Order
Humans
Ketoglutarate Dehydrogenase Complex
Ketone Oxidoreductases--genetics
Male
Mitochondria, Muscle--genetics
Models, Molecular
Molecular Sequence Data
Muscle, Skeletal--metabolism
Nonsense Mediated mRNA Decay
Pedigree