Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series

• DOI: 10.4414/smw.2006.11213
• Publication Date: 2022-10-07T15:44:33Z
• Authors: J Luetschg; J Weis
• Keywords: Creatine kinase

Both Duchenne muscular dystrophy (DMD) and Becker (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients less affected clinically than DMD patients. We present five with a diagnosis BMD. First, two identical twins, deletion exon 48 gene, who experienced prominent muscle cramps from age three. The histopathological examination biopsies these twins revealed only very slight fiber alterations. Second, brothers displayed marked, unusual intrafamilial variability clinical picture as well showing new point mutation in And finally, fifth boy Although he was asymptomatic at 15 biopsy showed minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, cases add to spectrum marked discrepancies clinical, molecular genetic findings