Article
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Neurology - 15 Sept 2020
Saito Yoshihiko, Nishikawa Atsuko, Iida Aritoshi, Mori-Yoshimura Madoka, Oya Yasushi, Ishiyama Akihiko, Komaki Hirofumi, Nakamura Seigo, Fujikawa Susumu, Kanda Takashi, Yamadera Misaki, Sakiyama Hiroshi, Hayashi Shinichiro, Nonaka Ikuya, Noguchi Satoru, Nishino Ichizo
Abstract excerpt
OBJECTIVE: To elucidate the prevalence of Japanese ADSSL1 myopathy and determine the clinicopathologic features of the disease. METHODS: We searched for ADSSL1 variants in myopathic patients from January 1978 to March 2019 in our repository and assessed the clinicopathologic features of patients with variants. RESULTS: We identified 63 patients from 59 families with biallelic variants of ADSSL1. Among the 7...
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