Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

Abstract

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.

• Authors: W Ludo van der Pol, Jolien F Leijenaar, Wim G M Spliet, Selma W Lavrijsen, Nicolaas J G Jansen, Kees P J Braun, Marcel Mulder, Brigitte Timmers-Raaijmakers, Kimberly Ratsma, Dennis Dooijes, Mieke M van Haelst
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 2 Issue 2 Pg. 134-7 (Mar 2014) ISSN: 2324-9269 [Print] United States
• PMID: 24689076 (Publication Type: Journal Article)