A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.
- Author:
Chor Kwan CHING
1
;
Kwok Kwong LAU
;
Kwok Wai YU
;
Yan Wo Albert CHAN
;
Miu Chloe MAK
Author Information
1. Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
- Publication Type:Case Reports
- MeSH:
Adult;
Charcot-Marie-Tooth Disease;
etiology;
genetics;
Female;
GTP Phosphohydrolases;
Humans;
Membrane Proteins;
genetics;
Mitochondrial Proteins;
genetics;
Mutation;
Sequence Analysis, DNA
- From:
Chinese Medical Journal
2010;123(11):1466-1469
- CountryChina
- Language:English
