Spanish family with myalgia and cramps syndrome
- M B Sánchez-Arjona1,
- J J Rodríguez-Uranga1,
- M Giles-Lima2,
- R Fernández-García3,
- I Chinchón-Lara2,
- G Antiñolo3,
- J Bautista-Lorite1
- 1Neurology Service, University Hospital Virgen del Rocío, Seville, Spain
- 2Department of Pathology, Neuropathology Unit, University Hospital Virgen del Rocío, Seville
- 3Service of Genetics, University Hospital Virgen del Rocío, Seville
- Correspondence to: Dr María Bernal Sánchez-Arjona C/Castillo Alcalá de Guadaira No 17, C2, 1° A, 41013 Seville, Spain; mbs-aole.com
- Received 21 January 2004
- Accepted 27 May 2004
- Revised 16 April 2004
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.
Footnotes
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Competing interests: none declared
