A case of congenital myopathy caused by the SPEG gene mutation / 中华实用儿科临床杂志

ABSTRACT

Clinical data of a child with congenital myopathy caused by the SPEG gene mutation diagnosed in the Children′s Hospital of Nanjing Medical University in March 2020 were retrospectively analyzed, and the relevant literature was reviewed.A 13-year-old female child with lagged motor development since childhood, weakness of both lower extremities for 10 years, and slow progression of disease.Physical examinations showed gait swinging, mild hypertrophy of gastrocnemius, positive Gower sign, grade Ⅴ distal muscle strength of both lower extremities, and grade Ⅳ proximal muscle strength.The electromyography showed myogenic damage changes.Her 11-year-old sister presented similar symptoms of muscle weakness.Gene sequencing revealed compound heterozygous mutations in the SPEG gene, with the newly reported mutation sites at c. 3715+ 4C>T and c. 3588delC, which had not been reported at home and abroad.This study for the first time reported a case of congenital myopathy caused by the SPEG gene mutation in China, which differed from previous cases accompanied cardiomyopathy.This case report expanded the mutation spectrum of the SPEG gene.