REPORT of a novel mutation in the  PMP22  gene causing an axonal neuropathy | Zendy

Gess Burkhard | Zendy; Jeibmann Astrid | Zendy; Schirmacher Anja | Zendy; Kleffner Ilka | Zendy; Schilling Matthias | Zendy; Young Peter | Zendy

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

Author(s) -

Gess Burkhard,

Jeibmann Astrid,

Schirmacher Anja,

Kleffner Ilka,

Schilling Matthias,

Young Peter

Publication year - 2011

Publication title -

muscle and nerve

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.025

H-Index - 145

eISSN - 1097-4598

pISSN - 0148-639X

DOI - 10.1002/mus.21973

Subject(s) - peripheral myelin protein 22 , point mutation , mutation , peripheral neuropathy , genetics , medicine , phenotype , myelin , allele , gene duplication , gene , hereditary motor and sensory neuropathy , pathology , biology , endocrinology , central nervous system , diabetes mellitus

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. Muscle Nerve, 2011

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