European journal of neurology, 2007-01, Vol.14 (1), p.115-116
2007
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Details
- Autor(en) / Beteiligte
- Titel
- Bilateral hand amyotrophy with PMP-22 gene deletion
- Ist Teil von
- European journal of neurology, 2007-01, Vol.14 (1), p.115-116
- Ort / Verlag
- Oxford, UK: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2007
- Quelle
- Wiley Online Library - AutoHoldings Journals
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1351-5101eISSN: 1468-1331, 1471-0552DOI: 10.1111/j.1468-1331.2006.01576.xTitel-ID: cdi_proquest_miscellaneous_68426541
- Format
- –
- Schlagworte
- distal demyelination, Female, Gene Deletion, Hand - pathology, Hand - physiology, hand weakness, hereditary neuropathy with liability to pressure palsies, Hereditary Sensory and Motor Neuropathy - diagnosis, Hereditary Sensory and Motor Neuropathy - genetics, Hereditary Sensory and Motor Neuropathy - physiopathology, Humans, Middle Aged, Myelin Proteins - genetics