Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
- Author
- DENG, Han-Xiang1 ; KLEIN, Christopher J2 ; HEDLEY-WHYTE, E. Tessa6 ; DELONG, Robert7 ; MARTINA, Marco5 ; DYCK, Peter J2 ; SIDDIQUE, Teepu1 4 ; JIANHUA YAN1 ; YONG SHI1 ; YANHONG WU3 ; FECTO, Faisal1 4 ; YAU, Hau-Jie5 ; YI YANG1 ; HONG ZHAI1 ; SIDDIQUE, Nailah1
[1] Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
[2] Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic Foundation, Rochester, Minnesota, United States
[3] Department of Laboratory Medicine and Pathology, Mayo Clinic Foundation, Rochester, Minnesota, United States
[4] Interdepartmental Neuroscience Program, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
[5] Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
[6] Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States
[7] Department of Pediatrics, Duke University Medical School, Durham, North Carolina, United States - Source
Nature genetics. 2010, Vol 42, Num 2, pp 165-169, 5 p ; ref : 30 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Altération Amyotrophie médullaire Pathologie du système nerveux central Maladie dégénérative Pathologie de la moelle épinière Pathologie du système nerveux Pathologie neuromusculaire
- Keyword (en)
- Allele Alteration Spinal amyotrophy Central nervous system disease Degenerative disease Spinal cord disease Nervous system diseases Neuromuscular diseases
- Keyword (es)
- Alelo Alteración Amiotrofía medular Sistema nervosio central patología Enfermedad degenerativa Médula espinal patología Sistema nervioso patología Neuromuscular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22374705
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/ng.509 
https://dx.doi.org/10.1038/ng.509
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