Ontology highlight
ABSTRACT:
SUBMITTER: Yis U
PROVIDER: S-EPMC6390111 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Yiş Uluç U Diniz Gülden G Hazan Filiz F Daimagüler Hülya Sevcan HS Baysal Bahar Toklu BT Baydan Figen F Akinci Gülçin G Ünalp Aycan A Aktan Gül G Bayram Erhan E Hiz Semra S Paketçi Cem C Okur Derya D Özer Erdener E Danyeli Ayça Ersen AE Polat Muzaffer M Uyanik Gökhan G Çirak Sebahattin S
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20180901 3
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 g ...[more]