Paper Details

Paper Title

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

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2020

Bio Mention

ACTG2, ACTG2 gene, Arg63, CpG, Visceral myopathy, abnormal intestinal and bladder peristalsis, arginine, chronic intestinal pseudo-obstruction, dinucleotides, functional bladder, gastrointestinal obstruction, intestinal hypoperistalsis syndrome, megacystis, microcolon, missense alleles, p.Arg178, p.Arg257, p.Arg40, visceral myopathy

Mesh Descriptor

Author Name	Affiliation
Zeynep Coban Akdemir	Baylor College of Medicine
Margaret Harr	Center for Applied Genomics, Children's Hospital of Philadelphia
Anna C E Hurst	University of Alabama at Birmingham
Shalini N Jhangiani	Baylor College of Medicine
Pengfei Liu	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
Arthur L Beaudet	Baylor College of Medicine
Arthur L Beaudet	Texas Children's Hospital
Arthur L Beaudet	Baylor College of Medicine
Michael F Wangler	Baylor College of Medicine
Michael F Wangler	Texas Children's Hospital
Michael F Wangler	Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Michael F Wangler	Baylor College of Medicine

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