Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.

Autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are characterized by clinical and genetic heterogeneity. LGMD type 2C, or γ-sarcoglycanopathy, is the most frequent in North African populations as a result of the founder c.525delT mutation in the SGCG gene.

Unexpected fertility and paternal UPD 22.

Objective: To investigate and explain unexpected fertility in a man with der(22;22)(q10;10q).

Design: Lymphocyte cultures, cytogenetic preparation, microsatellite genotyping analysis, affiliation test using AmpFlSTR Profiler PlusTM PCR amplication.

Setting: Research laboratory.

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients.

Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients.