Article
Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.
Swiss medical weekly - 18 Mar 2006
Ramelli G P, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder J M
Abstract excerpt
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...
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