Literature DB >> 9855539

The first European family with tibial muscular dystrophy outside the Finnish population.

J de Seze1, B Udd, H Haravuori, B Sablonnière, C A Maurage, J F Hurtevent, N Boutry, T Stojkovic, S Schraen, H Petit, P Vermersch.   

Abstract

We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed late onset distal leg myopathy similar to the description of TMD. A molecular genetic study was made owing to the very recent TMD linkage findings on chromosome 2q31. All five clinically affected patients segregated a specific haplotype for the locus, whereas two unaffected patients had different haplotype. The results of this family without Finnish ancestors show that TMD exists outside the Finnish population.

Entities:  

Mesh:

Year:  1998        PMID: 9855539     DOI: 10.1212/wnl.51.6.1746

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  5 in total

1.  Biophysical characterization of naturally occurring titin M10 mutations.

Authors:  Michael W Rudloff; Alec N Woosley; Nathan T Wright
Journal:  Protein Sci       Date:  2015-04-02       Impact factor: 6.725

2.  Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Authors:  Peter Hackman; Anna Vihola; Henna Haravuori; Sylvie Marchand; Jaakko Sarparanta; Jerome De Seze; Siegfried Labeit; Christian Witt; Leena Peltonen; Isabelle Richard; Bjarne Udd
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

Review 3.  Distal myopathies.

Authors:  Bjarne Udd
Journal:  Curr Neurol Neurosci Rep       Date:  2014-03       Impact factor: 5.081

4.  The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Authors:  Marzia Pollazzon; Tiina Suominen; Sini Penttilä; Alessandro Malandrini; Maria Alessandra Carluccio; Mauro Mondelli; Annabella Marozza; Antonio Federico; Alessandra Renieri; Peter Hackman; Maria Teresa Dotti; Bjarne Udd
Journal:  J Neurol       Date:  2009-11-13       Impact factor: 4.849

Review 5.  Increasing Role of Titin Mutations in Neuromuscular Disorders.

Authors:  Marco Savarese; Jaakko Sarparanta; Anna Vihola; Bjarne Udd; Peter Hackman
Journal:  J Neuromuscul Dis       Date:  2016-08-30
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.