换一批Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
作者：
Marttila,M. [1]
;
Lehtokari,V.-L. [2]
;
Marston,S. [3]
;
Nyman,T.A. [4]
;
Barnerias,C. [5]
;
Beggs,A.H. [6]
;
Bertini,E. [7]
;
Ceyhan-Birsoy,O. [8]
;
Cintas,P. [9]
;
Gerard,M. [10]
;
Gilbert-Dussardier,B. [11]
;
Hogue,J.S. [12]
;
Longman,C. [13]
;
Eymard,B. [14]
;
Frydman,M. [15]
;
Kang,P.B. [16]
;
Klinge,L. [17]
;
Kolski,H. [18]
;
Lochmüller,H. [19]
;
Magy,L. [20]
;
Manel,V. [21]
;
Mayer,M. [22]
;
Mercuri,E. [23]
;
North,K.N. [24]
;
Peudenier-Robert,S. [25]
;
Pihko,H. [26]
;
Probst,F.J. [27]
;
Reisin,R. [28]
;
Stewart,W. [29]
;
Taratuto,A.L. [30]
;
deVisser,M. [31]
;
Wilichowski,E. [32]
;
Winer,J. [33]
;
Nowak,K. [34]
;
Laing,N.G. [35]
;
Winder,T.L. [36]
;
Monnier,N. [37]
;
Clarke,N.F. ;
Pelin,K. ;
Gr?nholm,M. ;
Wallgren-Pettersson,C.
作者单位：
Department of Neurology, Academic Medical Center, Amsterdam, Netherlands
[1]
The Department of Pediatrics, San Antonio Military Medical Center, Houston, TX, United States
[2]
Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Aviv University, Tel Aviv
[3]
Centre de Référence des Maladies Neuromusculaires Rh?ne-Alpes, H?pital Femme-Mère-Enfant, Lyon
[4]
Centre de reference de pathologie neuromusculaire, CHU Toulouse, Toulouse, France
[5]
Department of Pathology, Southern General Hospital, Glasgow, United Kingdom
[6]
University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham, United Kingdom
[7]
Cliniques des maladies du développement CHU Paris, Paris, France
[8]
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's
[9]
Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia
[10]
Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital
[11]
University Medical Centre G?ttingen, G?ttingen, Germany
[12]
National Referral Center for Rare Peripheral Neuropathies, Centre Hospitalier Universitaire
[13]
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United
[14]
Centre de Référence et de Suivi des Maladies Neuromusculaires, H?pital Trousseau, Paris, France
[15]
Hospital Británico de Buenos Aires, Buenos Aires, Argentina
[16]
INMR, The Children's Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney
[17]
P?le de la Femme, de la Mère et de l'Enfant, Centre Hospitalier Régional Universitaire Brest, Brest
[18]
West of Scotland Regional Genetics Service, Glasgow, United Kingdom
[19]
Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière
[20]
Laboratoire de Biochimie et Génétique Moléculaire, IBP-CHU Grenoble, Grenoble, France
[21]
Pediatric Neurology, Catholic University, Rome, Italy
[22]
University of Helsinki Central Hospital, Helsinki, Finland
[23]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States
[24]
Division of Biochemistry and Biotechnology, Department of Biosciences, University of Helsinki
[25]
The Folkh?lsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki
[26]
Murdoch Children's Research Institute, Melbourne, Australia
[27]
PreventionGenetics, Marshfield, MA, United States
[28]
National Heart and Lung Institute, Imperial College London, London, United Kingdom
[29]
Genetics, University Hospital La Miletrie, Poitiers, France
[30]
Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina
[31]
Glenrose Rehabilitation Hospital, University of Alberta, Alberta, Canada
[32]
Institute of Genetic Medicine, Newcastle University, Tyne and Wear, United Kingdom
[33]
Service de Génétique, CHU Clémenceau, Caen, France
[34]
Institute of Biotechnology, University of Helsinki, Helsinki, Finland
[35]
Department of Pediatrics and Pediatric Neurology, Georg August University, G?ttingen, Germany
[36]
Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland
[37]
发布时间
2015-02-03
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Human mutation
Human mutation
779-790页
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