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Article

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

Orphanet journal of rare diseases - 15 Sept 2022

Dedeoglu Savas, Dede Elif, Oztunc Funda, Gedikbasi Asuman, Yesil Gozde, Dedeoglu Reyhan

Abstract excerpt

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 adult-onset cardiomyopathy, sometimes of the restrictive hypertrophic form with a poor prognosis. We aimed to evaluate severe...

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Identifiers

PMID: 36109815
DOI: 10.1186/s13023-022-02483-7
PMCID: PMC9479229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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