title: A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.
authors.affiliation: Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
authors.forename: Chor Kwan
authors.initials: CK
authors.lastname: Ching
authors.forename: Kwok Kwong
authors.initials: KK
authors.lastname: Lau
authors.forename: Kwok Wai
authors.initials: KW
authors.lastname: Yu
authors.forename: Yan Wo Albert
authors.initials: YW
authors.lastname: Chan
authors.forename: Miu Chloe
authors.initials: MC
authors.lastname: Mak
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human