Article
Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
Clinical journal of gastroenterology - 1 Jun 2024
Devavarapu Prasad K V, Uppaluri Kalyan Ram, Nikhade Vrushabh Anil, Palasamudram Kalyani, Sri Manjari Kavutharapu
Abstract excerpt
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. The most common genes associated with MMIHS mutations are ACTG2, LMOD1, MYH11, MYL9, MYLK, and PDCL3. However, the complete genetic landscape of MMIHS still needs to be fully understood. The diagnosis of MMIHS...
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