Skeletal Muscle Na+ Channel Disorders
Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms o...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2011-10-01
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| Series: | Frontiers in Pharmacology |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fphar.2011.00063/full |
| _version_ | 1818558791243792384 |
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| author | Dina eSimkin Saïd eBendahhou |
| author_facet | Dina eSimkin Saïd eBendahhou |
| author_sort | Dina eSimkin |
| collection | DOAJ |
| description | Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows. |
| first_indexed | 2024-12-14T00:16:53Z |
| format | Article |
| id | doaj.art-3b26c2fbab7c4bb09d65e2ce8bf12aa6 |
| institution | Directory Open Access Journal |
| issn | 1663-9812 |
| language | English |
| last_indexed | 2024-12-14T00:16:53Z |
| publishDate | 2011-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj.art-3b26c2fbab7c4bb09d65e2ce8bf12aa62022-12-21T23:25:29ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122011-10-01210.3389/fphar.2011.0006313926Skeletal Muscle Na+ Channel DisordersDina eSimkin0Saïd eBendahhou1Rosalind Franklin University of Medicine and ScienceCentre National de la Recherche ScientifiqueFive inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.http://journal.frontiersin.org/Journal/10.3389/fphar.2011.00063/fullskeletal muscleSodium channelTreatmentNav1.4 |
| spellingShingle | Dina eSimkin Saïd eBendahhou Skeletal Muscle Na+ Channel Disorders Frontiers in Pharmacology skeletal muscle Sodium channel Treatment Nav1.4 |
| title | Skeletal Muscle Na+ Channel Disorders |
| title_full | Skeletal Muscle Na+ Channel Disorders |
| title_fullStr | Skeletal Muscle Na+ Channel Disorders |
| title_full_unstemmed | Skeletal Muscle Na+ Channel Disorders |
| title_short | Skeletal Muscle Na+ Channel Disorders |
| title_sort | skeletal muscle na channel disorders |
| topic | skeletal muscle Sodium channel Treatment Nav1.4 |
| url | http://journal.frontiersin.org/Journal/10.3389/fphar.2011.00063/full |
| work_keys_str_mv | AT dinaesimkin skeletalmusclenachanneldisorders AT saidebendahhou skeletalmusclenachanneldisorders |