Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)-Reference-Cited by-同舟云学术

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Published:2008-12 Issue:12 Volume:18 Page:922-928
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hackman Peter,Marchand Sylvie,Sarparanta Jaakko,Vihola Anna,Pénisson-Besnier Isabelle,Eymard Bruno,Pardal-Fernández Jose Manuel,Hammouda El-Hadi,Richard Isabelle,Illa Isabel,Udd Bjarne

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Tibial muscular dystrophy – late adult onset distal myopathy in 66 Finnish patients;Udd;Arch Neurol,1993

2. Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31;Haravuori;Am J Hum Genet,1998

3. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal–muscle protein titin;Hackman;Am J Hum Genet,2002

4. The complete gene sequence of titin, expression of an unusual 700kDa-titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system;Bang;Circ Res,2001

5. Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms;Kolmerer;J Mol Biol,1996

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