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

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...

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Bibliographic Details
Main Authors: Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu
Format: Article
Language:English
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

Internet

https://doi.org/10.1186/s13023-022-02483-7

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