Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

Autor: van der Pol, W.L., Leijenaar, J.F., Spliet, W.G.M., Lavrijsen, S.W., Jansen, N.J.G., Braun, K.P.J., Mulder, M., Timmers-Raaijmaakers, B.C.M.S., Ratsma, K., Dooijes, D., van Haelst, MM, Universiteit Utrecht

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics and Genomics, 2(2), 134. Springer Verlag
van der Pol, W L, Leijenaar, J F, Spliet, W G M, Lavrijsen, S W, Jansen, N J G, Braun, K P J, Mulder, M, Timmers-Raaijmakers, B, Ratsma, K, Dooijes, D & van Haelst, M M 2014, ' Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree ', Molecular Genetics and Genomic Medicine, vol. 2, no. 2, pp. 134-7 . https://doi.org/10.1002/mgg3.52
Molecular Genetics and Genomic Medicine, 2(2), 134-7. John Wiley and Sons Inc.

Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers. Thus far, mutations in seven genes have been ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5788516582c8730ffc8fb545c53bae14
https://hdl.handle.net/1874/290507

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