Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
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Yiş Uluç, Diniz Gülden, Hazan Filiz, Daimagüler Hülya Sevcan, Baysal Bahar Toklu, Baydan Figen, Akinci Gülçin, Ünalp Aycan, Aktan Gül, Bayram Erhan, Hiz Semra, Paketçi Cem, Okur Derya, Özer Erdener, Danyeli Ayça Ersen, Polat Muzaffer, Uyanik Gökhan, Çirak Sebahattin
Аннотация
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.