Show items per page
Elements: 2
Page 1 on 1
 TitleAuthors / EditorsDate
add to browser selection
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy Böhm, Johann; Lornage, Xavière; Chevessier, Frederic; Birck, Catherine; ... Laporte, Jocelyn 2018
add to browser selection
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ferreiro-girani, Ana; Monnier, Nicole; Romero, Norma B; Leroy, Jean-Paul; ... Guicheney, Pascale 2002