Nemaline myopathy caused by TNNT1 mutations in a D utch 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 single TNNT1 n...

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Bibliographic Details
Published in:Molecular genetics & genomic medicine 2014-03, Vol.2 (2), p.134-137
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: Article
Language:English
Subjects:
Congenital diseases
Families & family life
Gene deletion
Genes
Genotype & phenotype
Inclusion bodies
Inclusions
Microscopy
Muscles
Mutation
Myopathy
Nemaline myopathy
NMR
Nonsense mutation
Nuclear magnetic resonance
Ostomy
Patients
Pedigree
Phenotypes
Proteins
Ventilation
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Description
Summary: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 single TNNT1 nonsense mutation has been previously described that causes autosomal recessive NM in the old order A mish 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 the TNNT1 gene. This report confirms the specific clinical phenotype of TNNT1 NM and documents two new TNNT1 mutations outside the old order A mish.
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.52