Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy
| Autor: | W. H. J. P. Linssen, John H. J. Wokke, M. de Visser, Nicolas Lévy, W G de Voogt, H.B. Ginjaar, Martin Krahn, Rafaëlle Bernard |
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| Přispěvatelé: | Neurology |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Weakness medicine.medical_specialty Time Factors distal myopathy Dysferlin Cohort Studies Internal medicine medicine follow-up Humans Myopathy Aged biology medicine.diagnostic_test business.industry Miyoshi anoctamin 5 Magnetic resonance imaging Middle Aged medicine.disease Phenotype dysferlin Distal Myopathies Muscular Atrophy Neurology cardiology Cohort biology.protein Female Neurology (clinical) medicine.symptom business Distal muscular dystrophy Cohort study Follow-Up Studies |
| Zdroj: | European Journal of Neurology, 20(6), 968-974 European journal of neurology, 20(6), 968-974. Wiley-Blackwell |
| ISSN: | 1351-5101 |
| Popis: | To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD). A long-term clinical follow-up study was conducted. Patients were genotyped for dysferlin (MMD1) or anoctamin 5 (MMD3) mutations. Patients also underwent cardiological evaluation. There were 10 patients with MMD1, eight patients with MMD3 and four patients with linkage to chromosome 10 (MMD2). All patients deteriorated over 5.7 (range: 4.2-6.6) years of follow-up. Weakness increased significantly (P |
| Databáze: | OpenAIRE |
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