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

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-ons...

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Detalles Bibliográficos
Autores principales: Dedeoglu, Savas, Dede, Elif, Oztunc, Funda, Gedikbasi, Asuman, Yesil, Gozde, Dedeoglu, Reyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479229/
https://www.ncbi.nlm.nih.gov/pubmed/36109815
http://dx.doi.org/10.1186/s13023-022-02483-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479229/
https://www.ncbi.nlm.nih.gov/pubmed/36109815
http://dx.doi.org/10.1186/s13023-022-02483-7

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