Article
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Neuromuscular disorders : NMD - 1 Aug 2012
Vital Anne, Latour Philippe, Sole Guilhem, Ferrer Xavier, Rouanet Marie, Tison François, Vital Claude, Goizet Cyril
Abstract excerpt
Either dominantly inherited mutations in MFN2 encoding mitofusin 2 or GDAP1 encoding ganglioside-induced differentiation associated protein 1 may be associated with mild neuropathy. The proband, a 41-year-old woman, and her daughter present a severe axonal form of Charcot-Marie-Tooth (CMT) disease. Both are heterozygous for the well-described mild variant p.R120W in GDAP1, which was transmitted by the pauci...
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