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

Abstract 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. H...

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Autori principali:	Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2020-11-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	congenital loss‐of‐function MMIHS MYL9 myopathy
Accesso online:	https://doi.org/10.1002/mgg3.1516
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