Cargando…
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, a broad clinical spectrum, and variable severity. Several molecular bases underlying primary PIPO have been identified, of which autosomal dominant ACTG2-related viscera...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins, Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158422/ https://www.ncbi.nlm.nih.gov/pubmed/37168481 http://dx.doi.org/10.1097/PG9.0000000000000258 |
Ejemplares similares
-
Expanding the genotypic spectrum of ACTG2-related visceral myopathy
por: James, Kiely N., et al.
Publicado: (2021) -
Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants
por: Finsterer, Josef
Publicado: (2023) -
Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction—a case report
por: Xiong, Xiaoyu, et al.
Publicado: (2021) -
First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
por: Bittmann, Stefan, et al.
Publicado: (2022) -
Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)