Abstract: Objective　To improve the understanding of the clinical and genotypic characteristics of limb-girdle muscular dystrophy type 2D (LGMD2D). Methods　The clinical manifestations, laboratory tests, electromyography, muscle MRI and genetic test results of a patient with LGMD2D were retrospectively analyzed, and the related literature were reviewed. Results The patient was a 5 years and 7 months old male, who presented with progressive muscle weakness, gastrocnemius hypertrophy, Gower sign positive, phosphocreatine kinase 20602 U/L, electromyography showed myogenic damage, muscle MRI showed a high signal of double lower limb subcutaneous fat layer and the muscles on the fat suppressed sequence, and the muscles were more obvious. The MLPA result of Duchenne muscular dystrophy (DMD) gene test was negative, and the whole exom sequencing showed a homozygous c.234-235AC>GA mutation in exon 3 of SGCA gene which has not been reported. According to ACMG rating, this variant was pathogenic, and his parents were all heterozygous carriers. The patient was diagnosed as LGMD2D. Conclusion　SGCA c.234-235AC>GA variation may be a novel pathogenic mutation in LGMD2D. For children with clinically suspected muscular dystrophy and significantly increased muscle enzyme, in addition to DMD, we should also pay attention to the LGMD2D.

Key words: limb-band muscular dystrophy 2D;　SGCA gene;　phosphocreatine kinase