Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.

Mori, Mari; Clause, Amanda R; Truxal, Kristen; Hagelstrom, R Tanner; Manickam, Kandamurugu; Kaler, Stephen G; Prasad, Vinay; Windster, Jonathan; Alves, Maria M; Di Lorenzo, Carlo.

Afiliação

Mori M; From the Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Clause AR; Department of Pediatrics, The Ohio State University, Columbus, OH.
Truxal K; Illumina Inc., San Diego, CA.
Hagelstrom RT; From the Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Manickam K; Department of Pediatrics, The Ohio State University, Columbus, OH.
Kaler SG; Illumina Inc., San Diego, CA.
Prasad V; From the Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Windster J; Department of Pediatrics, The Ohio State University, Columbus, OH.
Alves MM; From the Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Di Lorenzo C; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH.

JPGN Rep ; 3(4): e258, 2022 Nov.

Article em En | MEDLINE | ID: mdl-37168481

Palavras-chave

ACTG2-related disorder; chronic intestinal pseudo-obstruction; genome sequencing; megacystis microcolon intestinal hypoperistalsis syndrome; visceral myopathy

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article