Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy by Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek

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Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy by Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

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