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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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/
id pubmed-3960055
recordtype oai_dc
spelling pubmed-39600552014-03-31 Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree 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 Original Article 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 nonsense mutation has been previously described that causes autosomal recessive NM in the old order Amish with a very specific clinical phenotype including rapidly progressive contractures. Here, we report a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in theTNNT1 gene. This report confirms the specific clinical phenotype ofTNNT1 NM and documents two newTNNT1 mutations outside the old order Amish. Wiley Periodicals, Inc. 2014-03 2013-12-12 /pmc/articles/PMC3960055/ /pubmed/24689076 http://dx.doi.org/10.1002/mgg3.52 Text en © 2013 The Authors.Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/3.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author 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
spellingShingle 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
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
author_facet 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
author_sort van der Pol, W Ludo
title Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
title_short Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
title_full Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
title_fullStr Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
title_full_unstemmed Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
title_sort nemaline myopathy caused bytnnt1 mutations in a dutch pedigree
description 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 nonsense mutation has been previously described that causes autosomal recessive NM in the old order Amish with a very specific clinical phenotype including rapidly progressive contractures. Here, we report a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in theTNNT1 gene. This report confirms the specific clinical phenotype ofTNNT1 NM and documents two newTNNT1 mutations outside the old order Amish.
publisher Wiley Periodicals, Inc.
publishDate 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055/
_version_ 1612069544530018304

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