Type 1B Research - from Poland

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Abstract from Neuromuscul Disord. 2004 Mar;14(3):229-32.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with

Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzinska D, Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences,

Banacha 1a, Warsaw 02-098, Poland.

Charcot-Marie-Tooth type 1B disease is a demyelinating neuropathy caused

by mutations in the Myelin Protein Zero gene. It is inherited in an

autosomal dominant fashion. So far only a few patients with a focally

folded myelin phenotype on nerve biopsy have been shown to have

mutations in the Myelin Protein Zero gene. In this report we describe a

Polish patient with Charcot-Marie-Tooth type 1B disease. Sural nerve

biopsy demonstrated focally folded myelin. Molecular genetic analysis of

the coding region of the Myelin Protein Zero gene revealed a novel

mutation, Thr65Ala, in exon 2 of the Myelin Protein Zero gene.