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Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Author information

1
IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France. johann@igbmc.fr.
2
IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France.
3
CureVac AG, Tübingen, Germany.
4
IRCCS Istituto Neurologico C. Besta, Milan, Italy.
5
IRCCS San Camillo Hospital, Venice, Italy.
6
University of Geneva, Geneva, Switzerland.
7
Institut de Myologie, Paris, France.
8
Ruhr-University Bochum, Bochum, Germany.
9
IGBMC, Inserm U 964, CNRS UMR 7104, University of Strasbourg, Illkirch, France. jocelyn@igbmc.fr.
PMID:
29039140
DOI:
10.1007/s00401-017-1775-x

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