CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Johann BöhmXavière LornageFrederic ChevessierCatherine BirckSimona ZanottiPaola CudiaMonica BullaFlorence GrangerMai Thao BuiMaxime SartoriChristiane Schneider-GoldEdoardo MalfattiNorma B RomeroMarina MoraJocelyn Laporte

Published in: Acta neuropathologica (2017)

Keyphrases

late onset
high glucose
muscular dystrophy