Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
- Author
- MOREIRA, E. S1 2 ; WILTSHIRE, T. J3 ; JENNE, D. E5 ; FAULKNER, G4 ; NILFOROUSHAN, A5 ; VAINZOF, M1 6 ; SUZUKI, O. T1 2 ; VALLE, G7 ; REEVES, R3 ; ZATZ, M1 2 ; PASSOS-BUENO, M. R1 2
[1] Centro de Estudos do Genoma Humano, Instituto de Biocièncias, Universidade de São Paulo, São Paulo, Brazil
[2] Departamento de Biologia, Instituto de Biocièncias, Universidade de São Paulo, São Paulo, Brazil
[3] Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
[4] International Centre for Genetic Engineering and Biotechnology, Trieste, Italy
[5] Max-Planck Institute of Neurobiology, Department of Neuroimmunology, Martinsried, Germany
[6] Departamento de Neurologia, FMUSP, Italy
[7] CRIBI, University of Padua, Padua, Italy - Source
Nature genetics. 2000, Vol 24, Num 2, pp 163-166 ; ref : 30 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carte génétique Carte physique Chromosome E17 Dystrophie musculaire progressive ceintures Etude familiale Gène Homme Liaison génétique Mutation Sarcomère Téléthonine Maladie héréditaire Neuromusculaire pathologie Système nerveux pathologie
- Keyword (en)
- Genetic mapping Physical map Chromosome E17 Limb girdle muscular dystrophy Family study Gene Human Linkage Mutation Sarcomere Genetic disease Neuromuscular diseases Nervous system diseases
- Keyword (es)
- Mapa genético Mapa físico Cromosoma E17 Distrofia muscular progresiva cinturones Estudio familiar Gen Hombre Ligamiento genético Mutación Sarcómero Enfermedad hereditaria Neuromuscular patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1328792
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
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DOI
10.1038/72822 
https://dx.doi.org/10.1038/72822
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