Article
Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.
Neuromuscular disorders : NMD - 1 Jun 2011
Genari Adriana Borges, Borghetti Vinícius Horácio Stefani, Gouvêa Silmara Paula, Bueno Keity Cristina, dos Santos Patrícia Leila, dos Santos Antonio Carlos, Barreira Amilton Antunes, Lourenço Charles Marques, Marques Wilson
Abstract excerpt
Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy....
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