An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation

Nishioka, M; Inaba, Y; Motobayashi, M; Hara, Y; Numata, R; Amano, Y; Shingu, K; Yamamoto, Y; Murayama, K; Ohtake, A; Nakazawa, Y

Inaba, Y (reprint author), Nagano Childrens Hosp, Div Neurol, 3100 Toyoshina, Azumino, Japan.

BRAIN & DEVELOPMENT, 2018; 40 (6): 484

Abstract

Introduction: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detail......

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