A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype
| Autor: | Jordi Montero, Maria Antonia Alberti, Mònica Povedano, Isabel Banchs, Laura de Jorge, Carlos Casasnovas, Victor Volpini, Yolanda Martínez-Campo |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Physiology Neural Conduction Biology Polyneuropathies Cellular and Molecular Neuroscience Exon Muscle nerve Physiology (medical) medicine Humans Paralysis Multiplex ligation-dependent probe amplification Gene Sequence Deletion Genetics Middle Aged Phenotype medicine.anatomical_structure Etiology Microsatellite Neurology (clinical) Myelin Proteins Chromosomes Human Pair 17 Sensory nerve |
| Zdroj: | Muscle & Nerve. 45:135-138 |
| ISSN: | 0148-639X |
| DOI: | 10.1002/mus.22201 |
| Popis: | Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.Methods: Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies. Results: The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene. Conclusion: Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study. Muscle Nerve 45: 135–138, 2012 |
| Databáze: | OpenAIRE |
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