Myotonia associated with caveolin-3 mutation
| Autor: | Eric J. Sorenson, Kathleen M. McEvoy, Margherita Milone, Jasper R. Daube |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
myalgia
Pathology medicine.medical_specialty CLCN1 biology Physiology business.industry Cardiomyopathy Anatomy medicine.disease Myotonia Myotonic dystrophy Caveolin 3 Cellular and Molecular Neuroscience Physiology (medical) biology.protein Medicine Neurology (clinical) medicine.symptom Muscular dystrophy business Myopathy |
| Zdroj: | Muscle & Nerve. 45:897-900 |
| ISSN: | 0148-639X |
| DOI: | 10.1002/mus.23270 |
| Popis: | Introduction: Caveolin-3 is a major component of the caveolae in skeletal and cardiac muscle.Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy. Case Report: A 24-year-old man with myalgia, muscle stiffness, and fatigue has normal strength and prominent myotonic discharges in the gastrocnemius. He also has epilepsy. He harbors a heterozygous CAV3 mutation, p.V57M. He has no mutations in CLCN1 and SCN4A, and he had normal genetic testing for myotonic dystrophy type 1 and type 2. Conclusions: Mutations in CAV3, and in particular p.V57M in CAV3, previously reported in isolated familial hyperCKemia, can be associated with electrical myotonia. Muscle Nerve 45: 897-900, 2012 |
| Databáze: | OpenAIRE |
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