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Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita
OBJECTIVES—To characterise the clinical and electrophysiological features and to determine the molecular genetic basis of pure paramyotonia congenita in a previously unreported large Irish kindred. METHODS—Clinical and neurophysiological examination was performed on three of the five affected family...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736851/ https://ncbi.nlm.nih.gov/pubmed/10727489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.68.4.504 |
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