Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome
| Autor: | Michael G. Hanna, S V Tan, Sanjeev Rajakulendran |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
medicine.medical_specialty
Andersen Syndrome Small chin Mandible Bioinformatics Paralyses Familial Periodic Andersen–Tawil syndrome Internal medicine medicine Palpitations Humans Ion channel Muscle Weakness business.industry Muscle weakness Arrhythmias Cardiac Periodic paralysis General Medicine Middle Aged medicine.disease Potassium channel Musculoskeletal Abnormalities Endocrinology Channelopathies Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Practical Neurology. 10:227-231 |
| ISSN: | 1474-7766 1474-7758 |
| DOI: | 10.1136/jnnp.2010.217794 |
| Popis: | 'Ion channelopathies' have emerged in the past decade as a new cause of several neurological diseases. These Mendelian disorders are caused by mutations in genes that encode ion channel subunits and are often characterised by paroxysmal attacks of brain or muscle dysfunction, interspersed with periods of clinical normality. Andersen-Tawil syndrome is one of the rarest and is characterised clinically by the triad of periodic paralysis, cardiac dysrhythmias and skeletal abnormalities. Mutations in a potassium channel gene, KCNJ2 which encodes the potassium channel, Kir2.1, underlie the disorder. Here, the authors describe a patient and review the clinical spectrum and genetic features of the disorder. |
| Databáze: | OpenAIRE |
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