Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree

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 identified as cause of NM. Only one singleTNNT1 nonse...

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Bibliographische Detailangaben
Hauptverfasser: van der Pol, W Ludo, Leijenaar, Jolien F, Spliet, Wim G M, Lavrijsen, Selma W, Jansen, Nicolaas J G, Braun, Kees P J, Mulder, Marcel, Timmers-Raaijmakers, Brigitte, Ratsma, Kimberly, Dooijes, Dennis, van Haelst, Mieke M
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Periodicals, Inc. 2014
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3960055/
https://ncbi.nlm.nih.gov/pubmed/24689076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.52
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