Introduction: Limb girdle muscular dystrophies are nonsyndromic muscle disorders with clinical involvement limited to skeletal muscle. The aim of this study is to document the subgroup frequencies, clinical findings and related mutations of childhood onset limb girdle muscular dystrophies in the Aegean part of Turkey.

Methods: Clinical, muscle biopsy and genetic findings of pediatric cases with limb girdle muscular dystrophy followed in four different pediatric neurology departments in Aegean region of Turkey were evaluated.

Results: Fifty seven patients were evaluated. Limb girdle muscular dystrophy type 2C was the most common followed by limb girdle muscular dystrophy 2A, 2D and 2F with equal frequencies.  Twenty eight patients (52%) had a genetic diagnosis and SGCG was the most mutated gene. About half of the patients were diagnosed with whole exome sequencing. Correlation between muscle biopsy and genetic findings were observed in 11% of the patients. For the first time, we reported TTN, LMNA and MYOT gene mutations regarding limb girdle muscular dystrophy 2J, 1B and 1A from Turkey.

Discussion: Knowledge on frequencies of childhood onset limb girdle muscular dystrophies and related genes in Turkey will lead to prompt diagnosis of these neuromuscular disorders.