CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

• Böhm J IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France. johann@igbmc.fr.
• Lornage X IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France.
• Chevessier F CureVac AG, Tübingen, Germany.
• Birck C IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France.
• Zanotti S IRCCS Istituto Neurologico C. Besta, Milan, Italy.
• Cudia P IRCCS San Camillo Hospital, Venice, Italy.
• Bulla M University of Geneva, Geneva, Switzerland.
• Granger F IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France.
• Bui MT Institut de Myologie, Paris, France.
• Sartori M IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France.
• Schneider-Gold C Ruhr-University Bochum, Bochum, Germany.
• Malfatti E Institut de Myologie, Paris, France.
• Romero NB Institut de Myologie, Paris, France.
• Mora M IRCCS Istituto Neurologico C. Besta, Milan, Italy.
• Laporte J IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France. jocelyn@igbmc.fr.

Show more…

Adult

Calcium-Binding Proteins

Calsequestrin

Family

Female

Humans

Male

Middle Aged

Mitochondrial Proteins

Muscles

Mutation

Myoblasts

Myopathies, Structural, Congenital

Phenotype

Polymerization