Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction—a case report

Visceral myopathy is a rare genetic disorder that commonly affects the digestive and renal systems. Manifestations include a clinical spectrum covering chronic intestinal pseudo-obstruction (CIPO) and megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). The smooth muscle actin γ-2 gene...

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Detalles Bibliográficos
Autores principales: Xiong, Xiaoyu, Li, Jing, Liu, Chengjun, Xu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041608/
https://www.ncbi.nlm.nih.gov/pubmed/33880338
http://dx.doi.org/10.21037/tp-20-316

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