| Autor: |
Sánchez-Arjona, M. B., Rodriguez-Uranga, J. J., Giles-Lima, M., Fernández-García, R., Chinchón-Lara, I., Antiñolo, G., Bautista-Lorite, J., Sánchez-Arjona, M B, Rodríguez-Uranga, J J, Fernández-García, R, Chinchón-Lara, I, Antiñolo, G |
| Předmět: |
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| Zdroj: |
Journal of Neurology, Neurosurgery & Psychiatry; Feb2005, Vol. 76 Issue 2, p286-289, 4p |
| Abstrakt: |
A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal. Dystrophin analysis by western blot revealed a dystrophin of reduced quantity and molecular weight. DNA analysis showed a deletion of the dystrophin gene involving exons 45-52. The natural history of this disorder and the large intrafamilial clinical variability are discussed. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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