Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree

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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Bibliographic Details
Main Authors: 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: Online
Language:English
Published: Wiley Periodicals, Inc. 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055/

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