TITLE

Spanish family with myalgia and cramps syndrome

AUTHOR(S)
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
PUB. DATE
February 2005
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Feb2005, Vol. 76 Issue 2, p286
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
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.
ACCESSION #
16896917

 

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