Open AccessNemaline myopathy caused by TNNT1 mutations in a D utch pedigree
Author(s) -
Pol W. Ludo,
Leijenaar Jolien F.,
Spliet Wim G. M.,
Lavrijsen Selma W.,
Jansen Nicolaas J. G.,
Braun Kees P. J.,
Mulder Marcel,
TimmersRaaijmakers Brigitte,
Ratsma Kimberly,
Dooijes Dennis,
Haelst Mieke M.
Publication year - 2014
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.52
Subject(s) - nemaline myopathy , mutation , exon , nonsense mutation , phenotype , genetics , myopathy , muscle contracture , compound heterozygosity , gene , muscle weakness , medicine , biology , microbiology and biotechnology , missense mutation , anatomy
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.