Article
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Neurology - 9 Aug 2011
Zimoń M, Baets J, Fabrizi G M, Jaakkola E, Kabzińska D, Pilch J, Schindler A B, Cornblath D R, Fischbeck K H, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A
Abstract excerpt
OBJECTIVE: Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT) neuropathy; however, in rare instances, they also lead to autosomal dominant Charcot-Marie-Tooth (ADCMT). We aimed to investigate the frequency of disease-causing heterozygous GDAP1 mutations in ADCMT and their associated phenotype. METHODS: We...
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