ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Yoshihiko SaitoAtsuko NishikawaAritoshi IidaMadoka Mori-YoshimuraYasushi OyaAkihiko IshiyamaHirofumi KomakiSeigo NakamuraSusumu FujikawaTakashi KandaMisaki YamaderaHiroshi SakiyamaShinichiro HayashiIkuya NonakaSatoru NoguchiIchizo Nishino

Published in: Neurology (2020)

ADSSL1 myopathy is characterized by more variable manifestations than previously reported. It is the most common among all genetically diagnosable nemaline myopathies in our center, although mildly increased lipid droplets are also constantly observed features.

Keyphrases

late onset
muscular dystrophy
early onset
fatty acid
myasthenia gravis