Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Lindqvist J, Ma W, Li F, Hernandez Y, Kolb J, Kiss B, Tonino P, van der Pijl R, Karimi E, Gong H, Strom J, Hourani Z, Smith JE 3rd, Ottenheijm C, Irving T, Granzier H.
Lindqvist J, et al.
Nat Commun. 2020 Jun 1;11(1):2699. doi: 10.1038/s41467-020-16526-9.
Nat Commun. 2020.
PMID: 32483185
Free PMC article.