Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?
| Autor: | Makram R. Ebeid, Eric P. Hoffman, J. L. Baquero, W. G. Feero, Richard G. Curless, Jianzhou Wang, R. A. Ayala |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Heart disease Nav1.4 Sodium Channels Paralyses Familial Periodic Internal medicine medicine Humans Point Mutation Hyperkalemic periodic paralysis Muscle Skeletal Polymorphism Single-Stranded Conformational biology business.industry Sodium channel Metabolic disorder Skeletal muscle Arrhythmias Cardiac Periodic paralysis Cardiac dysrhythmia medicine.disease medicine.anatomical_structure Endocrinology Neurology Cardiology biology.protein Hyperkalemia Neurology (clinical) business |
| Zdroj: | Annals of Neurology. 37:408-411 |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.410370320 |
| Popis: | A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val783Ile) in the adult skeletal muscle sodium channel gene was detected. Although lack of available family members precluded rigorous genetic tests, the sodium channel change may be responsible for HyperPP in this patient and could also be responsible for the associated cardiac dysrhythmia. |
| Databáze: | OpenAIRE |
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