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Muscle Nerve. 2011 Apr;43(4):605-9. doi: 10.1002/mus.21973. Epub 2011 Feb 17.

Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.

Author information

1
Department of Neurology, University of Münster, Albert-Schweitzer Strasse 33, Münster 48149, Germany.

Abstract

INTRODUCTION:

Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype.

METHODS:

In this study we characterized a family with an axonal neuropathy.

RESULTS:

Three family members carried a heterozygous point mutation of the PMP22 gene, resulting in amino acid substitution R159C. Screening of 185 healthy controls did not reveal the R159C allele in any case.

DISCUSSION:

The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy.

PMID:
21337347
DOI:
10.1002/mus.21973
[Indexed for MEDLINE]

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