A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Autor: Rocha, Maria L., Dittmayer, Carsten, Uruha, Akinori, Korinth, Dirk, Chaoui, Rabih, Schlembach, Dietmar, Rossi, Rainer, Pelin, Katarina, Suk, Eun Kyung, Schmid, Simone, Goebel, Hans H., Schuelke, Markus, Stenzel, Werner, Englert, Benjamin

Publikováno v: In Neuromuscular Disorders March 2021 31(3):239-245

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Autor: Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Kishor Bhagwat P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas., Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bagłaj M; Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland., Bofferding L; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Bosanko KB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Bouassida S; Humboldt Clinic, Vivantes Health Network GmbH, Charité Academic Teaching Hospital, Medical University of Berlin, Berlin, Germany., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Enchautegui Colon Y; Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado., Garnica AD; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Harr MH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Heck S; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes 44093 Cedex 1, Nantes, France., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Mar Fan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Nezarati MM; Genetics Program, North York General Hospital, University of Toronto, Toronto, Ontario, Canada., Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Petersen MB; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Rocha ML; Humboldt Clinic, Vivantes Health Network GmbH, Charité Academic Teaching Hospital, Medical University of Berlin, Berlin, Germany., Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Smigiel R; Department of Pediatrics, Division of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Tully I; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Weisfeld-Adams J; Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado., Wells KO; Department of Surgery, Division of Colorectal Surgery, Baylor University Medical Center, Dallas, Texas., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Publikováno v: Human mutation [Hum Mutat] 2020 Mar; Vol. 41 (3), pp. 641-654. Date of Electronic Publication: 2019 Dec 19.