Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Author(s) -
Christoph Bachmann,
Martina Franchini,
Luuk R. van den Bersselaar,
Nick Kruijt,
Nicol C. Voermans,
Karlijn Bouman,
Erik-Jan Kamsteeg,
Karl Christian Knop,
Lucia Ruggiero,
Lucio Santoro,
Yoram Nevo,
Jo M. Wilmshurst,
John Vissing,
Michael Sinnreich,
Daniele Zorzato,
Francesco Muntoni,
Heinz Jungbluth,
Francesco Zorzato,
Susan Treves
Publication year - 2022
Publication title -
brain communications
Language(s) - English
Resource type - Journals
ISSN - 2632-1297
DOI - 10.1093/braincomms/fcac224
Subject(s) - ryr1 , biology , skeletal muscle , gene , myopathy , muscle biopsy , genetics , epigenetics , congenital myopathy , pathology , endocrinology , medicine , biopsy , ryanodine receptor , intracellular
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