A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.
Ching
Chor Kwan
CK
Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Lau
Kwok Kwong
KK
Yu
Kwok Wai
KW
Chan
Yan Wo Albert
YW
Mak
Miu Chloe
MC
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000209:etiology / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D017422:Sequence Analysis, DNA
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human