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

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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Bibliographic Details
Main Authors: Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital
loss‐of‐function
MMIHS
MYL9
myopathy
Online Access:https://doi.org/10.1002/mgg3.1516

Internet

https://doi.org/10.1002/mgg3.1516

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