A recurrent homozygous ACTN2 variant associated with core myopathy.

Michio InoueSatoru NoguchiKyuto SoneharaKeiko Nakamura-ShindoAkira TaniguchiHiroyuki KajikawaHisayoshi NakamuraKeiko IshikawaMegumu OgawaShinichiro HayashiYukinori OkadaSatoshi KuruAritoshi IidaIchizo Nishino

Published in: Acta neuropathologica (2021)

Keyphrases

late onset
muscular dystrophy
early onset