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Bilateral hand amyotrophy with PMP‐22 gene deletion
Author(s) -
Gochard A.,
Guennoc A. M.,
Praline J.,
Malinge M. C.,
De Toffol B.,
Corcia P.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2006.01576.x
Subject(s) - medicine , phenotype , weakness , amyotrophy , gene , clinical phenotype , genetics , bioinformatics , physical medicine and rehabilitation , pathology , surgery , biology , atrophy
Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52‐year‐old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP‐22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP‐22 gene.