QR Code

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Abstract Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging from sudden-onset infantile DCM to a...

Full description

Saved in:
Main Authors: Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu
Format: Artigo
Language:Inglês
Published: BMC 2022-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Alström syndrome
Severe cardiomyopathy
Genetic mutation
Online Access:https://doi.org/10.1186/s13023-022-02483-7
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items