Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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ABSTRACT:
SUBMITTER: Boerkoel CF
PROVIDER: S-EPMC1235266 | biostudies-literature | 2001 Feb
REPOSITORIES: biostudies-literature
Publications
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Boerkoel C F CF Takashima H H Stankiewicz P P Garcia C A CA Leber S M SM Rhee-Morris L L Lupski J R JR
American journal of human genetics 20001215 2
The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygo ...[more]
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