Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS), or “visceral myopathy,” is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. Five genes are linked to MMIHS: primarily ACTG2, but also LMOD1, MYH11, MYLK, and MYL9. Here we de...

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Detalles Bibliográficos
Autores principales: Kandler, Justin L., Sklirou, Evgenia, Woerner, Audrey, Walsh, Leslie, Cox, Eleina, Xue, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667357/
https://www.ncbi.nlm.nih.gov/pubmed/33031641
http://dx.doi.org/10.1002/mgg3.1516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667357/
https://www.ncbi.nlm.nih.gov/pubmed/33031641
http://dx.doi.org/10.1002/mgg3.1516

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