Redefining the clinical phenotypes of non-dystrophic myotonic syndromes
| Autor: | F H M Nieman, B.G.M. van Engelen, C. G. Faber, A. J. van der Kooi, Gea Drost, J. Trip, M. de Visser, H.B. Ginjaar |
|---|---|
| Přispěvatelé: | Faculteit der Geneeskunde, Amsterdam Neuroscience, Neurology |
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Genotype Cross-sectional study DNA Mutational Analysis Disease Sodium Channels Young Adult Chloride Channels Internal medicine Perception and Action [DCN 1] medicine Outpatient clinic Humans Young adult NAV1.4 Voltage-Gated Sodium Channel Aged Netherlands Neurologic Examination CLCN1 biology business.industry Electromyography Muscle weakness Syndrome Middle Aged Psychiatry and Mental health Cross-Sectional Studies Phenotype biology.protein Surgery Channelopathies Female Neurology (clinical) medicine.symptom business Myotonic Disorders |
| Zdroj: | Journal of Neurology, Neurosurgery and Psychiatry, 80(6), 647-652. BMJ Publishing Group Journal of neurology, neurosurgery, and psychiatry, 80(6), 647-652. BMJ Publishing Group Journal of Neurology, Neurosurgery, and Psychiatry, 80, 6, pp. 647-52 Journal of Neurology, Neurosurgery, and Psychiatry, 80, 647-52 |
| ISSN: | 0022-3050 |
| Popis: | Contains fulltext : 81752.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). METHODS: In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed NDM patients, 32 ClCh and 30 NaCh. RESULTS: Standardised interviews revealed that ClCh reported a higher frequency of muscle weakness (75 vs 36.7%; p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|