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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F.
Afiliación
  • Assia Batzir N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kishor Bhagwat P; Texas Children's Hospital, Houston, Texas.
  • Larson A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Coban Akdemir Z; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Baglaj M; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.
  • Bofferding L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bosanko KB; Department of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland.
  • Bouassida S; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.
  • Callewaert B; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Cannon A; Humboldt Clinic, Vivantes Health Network GmbH, Charité Academic Teaching Hospital, Medical University of Berlin, Berlin, Germany.
  • Enchautegui Colon Y; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Garnica AD; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
  • Harr MH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Heck S; Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.
  • Hurst ACE; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Jhangiani SN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Isidor B; Département de Pédiatrie Néonatologie, Kannerklinik, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.
  • Littlejohn RO; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Liu P; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Magoulas P; CHU de Nantes, Service de Génétique Médicale, Nantes 44093 Cedex 1, Nantes, France.
  • Mar Fan H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Marom R; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Nezarati MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Nugent KM; Texas Children's Hospital, Houston, Texas.
  • Petersen MB; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
  • Rocha ML; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Roeder E; Texas Children's Hospital, Houston, Texas.
  • Smigiel R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Tully I; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Weisfeld-Adams J; Genetics Program, North York General Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Wells KO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Posey JE; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
  • Lupski JR; Humboldt Clinic, Vivantes Health Network GmbH, Charité Academic Teaching Hospital, Medical University of Berlin, Berlin, Germany.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Wangler MF; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
Hum Mutat ; 41(3): 641-654, 2020 03.
Article en En | MEDLINE | ID: mdl-31769566
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arginina / Seudoobstrucción Intestinal / Actinas / Sustitución de Aminoácidos / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arginina / Seudoobstrucción Intestinal / Actinas / Sustitución de Aminoácidos / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos