Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

doi:10.1016/j.nmd.2006.01.006

Article

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

Neuromuscular disorders : NMD - 1 Mar 2006

Fabrizi Gian Maria, Pellegrini Maria, Angiari Chiara, Cavallaro Tiziana, Morini Alberto, Taioli Federica, Cabrini Ilaria, Orrico Daniele, Rizzuto Nicolò

Abstract excerpt

Autosomal dominant Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutations in the extracellular domain of P0. Here, we investigated clinically, electrophysiologically and pathologically a pedigree with a novel mutation in the intracellular domain of P0 (P0ic). The mutational analysis included denaturing high performance liquid chromatography (DHPLC) and nucleotide sequencing. Two patients...

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Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

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