Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Author

LEHTOKARI, Vilma-Lotta¹ ; PELIN, Katarina² ; DONNER, Kati¹ ; VOIT, Thomas³ ; RUDNIK-SCHÖNEBORN, Sabine⁴ ; STOETTER, Mechthild⁵ ; TALIM, Beril⁶ ; TOPALOGLU, Haluk⁷ ; LAING, Nigel G⁸ ; WALLGREN-PETTERSSON, Carina¹
[1] Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland
[2] Division of Genetics, Department of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland
[3] Groupe Hospitalier de la Pitié-Salpêtrière, Institut de Myologie, Université Pierre etMarie Curie Paris VI Inserm U 582, Paris, France
[4] Institute for Human Genetics, University Hospital, RWTH Aachen, Germany
[5] Children's Hospital, University of Tübingen, Tübingen, Germany
[6] Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey
[7] Child Neurology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey
[8] QEII Medical Center, Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Australia

Source

European journal of human genetics. 2008, Vol 16, Num 9, pp 1055-1061, 7 p ; ref : 35 ref

ISSN

1018-4813

Scientific domain

Genetics

Publisher

Nature Publishing, Avenel, NJ

Publication country

United States

Document type

Article

Language

English

Author keyword

congenital myopathy founder mutation linkage study nemaline (rod) myopathy tropomyosins

Keyword (fr)

Bâtonnet Carte génétique Déterminisme génétique Effet fondateur Génétique Homme Identification Liaison génétique Malade Mutation Myopathie némaline Origine Pathogénie Tropomyosine Turquie Maladie congénitale Maladie héréditaire Pathologie du muscle strié Asie

Keyword (en)

Rod Genetic mapping Genetic determinism Founder effect Genetics Human Identification Genetic linkage Patient Mutation Nemaline myopathy Origin Pathogenesis Tropomyosin Turkey Congenital disease Genetic disease Striated muscle disease Asia

Keyword (es)

Bastoncillo Mapa genético Determinismo genético Efecto fundador Genética Hombre Identificación Ligamiento genético Enfermo Mutación Miopatía nemalina Origen Patogenia Tropomiosina Turquía Enfermedad congénita Enfermedad hereditaria Músculo estriado patología Asia

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07E Population genetics, reproduction patterns / 002A07E03 Human

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

20561714

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS