Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients

Aims: Calpain-3 deficiency is the most common cause of autosomal-recessive limb-girdle muscular dystrophy (LGMD2). The 550delA mutation in the CAPN3 gene was frequently identified in patients from Eastern Europe. Methods: A screening for the 550delA mutation was performed in unrelated German patients with LGMD2 (n=98) and unknown hyperCKemia (n=106). Western blot analysis was available in 76 patients with LGMD2 and 35 patients with hyperCKemia. In samples that were heterozygous for the 550delA mutation the whole coding region of the CAPN3 was analyzed by sequencing. Results: 550delA was found in 8.1% in LGMD2 (n…