Expanding the genotypic spectrum of ACTG2-related visceral myopathy

Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (ACTG2) is associated with autosomal dominant VM. Whole-genome sequenc...

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Detalles Bibliográficos
Autores principales: James, Kiely N., Lau, Megan, Shayan, Katayoon, Lenberg, Jerica, Mardach, Rebecca, Ignacio, Romeo, Halbach, Jonathan, Choi, Lillian, Kumar, Soma, Ellsworth, Katarzyna A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208046/
https://www.ncbi.nlm.nih.gov/pubmed/33883208
http://dx.doi.org/10.1101/mcs.a006085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208046/
https://www.ncbi.nlm.nih.gov/pubmed/33883208
http://dx.doi.org/10.1101/mcs.a006085

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