Spanish family with myalgia and cramps syndrome.
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.
Sánchez-Arjona
M B
MB
Neurology Service, University Hospital Virgen del Rocío, Seville, Spain. mbs-a@ole.com
Rodríguez-Uranga
J J
JJ
Giles-Lima
M
M
Fernández-García
R
R
Chinchón-Lara
I
I
Antiñolo
G
G
Bautista-Lorite
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D015153:Blotting, Western; D002648:Child; D016189:Dystrophin / Q000032:analysis* / Q000235:genetics*; D017079:Exercise Tolerance; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000209:etiology / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010146:Pain / Q000209:etiology*; D010375:Pedigree; D013030:Spain; D013577:Syndrome
D016189:Dystrophin