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Article

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.

Neurology - 10 Oct 2006

Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy M E, Cambi F

Abstract excerpt

OBJECTIVE: To demonstrate that intronic mutations in the myelin protein zero (MPZ) cause Charcot-Marie-Tooth neuropathy 1B (CMT1B) by disrupting MPZ splicing. METHODS: We report a family with a T>G transversion at the invariant + 2 position in intron 4 of MPZ (c.614 + 2T>G) that abolishes 5' donor site recognition and is predicted to alter MPZ splicing. We obtained detailed clinical and neurophysiologic analysis...

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Source

Identifiers

PMID: 17030746
DOI: 10.1212/01.wnl.0000238499.37764.b1

Genes

MPZ

Provenance

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