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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
Lindqvist, Johan, Ma, Weikang, Li, Frank, Hernandez, Yaeren, Kolb, Justin, Kiss, Balazs, Tonino, Paola, van der Pijl, Robbert, Karimi, Esmat, Gong, Henry, Strom, Josh, Hourani, Zaynab, Smith, John E.,Volume:
11
Journal:
Nature Communications
DOI:
10.1038/s41467-020-16526-9
Date:
December, 2020
File:
PDF, 2.56 MB
2020