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...

Descrición completa

Detalles Bibliográficos

Principais autores:	Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2022-09-01
Series:	Orphanet Journal of Rare Diseases
Assuntos:	Alström syndrome Severe cardiomyopathy Genetic mutation
Acceso en liña:	https://doi.org/10.1186/s13023-022-02483-7
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!