Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.
Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.
Ramelli
G P
GP
Department of Paediatrics, Ospedale San Giovanni, 6500 Bellinzona, Switzerland. gianpaolo.ramelli@eoc.ch
Joncourt
F
F
Luetschg
J
J
Weis
J
J
Tolnay
M
M
Burgunder
J M
JM
D002648:Child; D003402:Creatine Kinase / Q000032:analysis / Q000097:blood; D016189:Dystrophin / Q000235:genetics; D005838:Genotype; D006801:Humans; D008967:Molecular Biology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010338:Pathology, Clinical; D010641:Phenotype; D013557:Switzerland
D016189:Dystrophin; D003402:Creatine Kinase