فهرست نشریات علمی دسترسی آزاد ایران

Limb-girdle muscular dystrophies (LGMDs) represent a varied group of genetic disorders characterised by the progressiveweakening and atrophy of proximal muscles, particularly those in the shoulders and hips. These conditions are inheritedin either an autosomal dominant or recessive pattern, with numerous genes implicated in their pathogenesis. Clinically,LGMDs are marked by a gradual decline in muscle function, often resulting in significant mobility impairments. In thisstudy, we identify and characterise a novel homozygous deletion mutation, c.572_574delTAA, in the SGCD gene in aconsanguineous Iranian family affected by LGMD2F. The patient, a 10.5-year-old boy, exhibited progressive muscleweakness alongside specific clinical features such as contractures and scoliosis. Genetic analysis revealed thatthis deletion caused a p.Leu191del alteration in the δ-sarcoglycan protein. The mutation was confirmed via Sangersequencing and found to co-segregate with the disease phenotype within the family. These findings provide newinsights into the genetic basis of LGMD2F, underscoring the critical role of comprehensive genetic analysis for accuratediagnosis and management. This study contributes to the broader understanding of the genetic diversity of LGMDs andhighlights the need for ongoing research to enhance diagnostic and therapeutic approaches.