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Expanded clinical spectrum of oculopharyngodistal myopathy type 1

Shimizu, T; Ishiura, H; Hara, M; Shibata, S; Unuma, A; Kubota, A; Sakuishi, K; Inoue, K; Goto, J; Takahashi, Y; Shirota, Y; Hamada, M; Shimizu, J; Tsuji, S; Toda, T

Ishiura, H (通讯作者),Univ Tokyo, Grad Sch Med, Dept Neurol, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.

MUSCLE & NERVE, 2022; 66 (6): 679

Abstract

Introduction/Aims Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a......

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