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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia

Abstract Background Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg...

Ausführliche Beschreibung

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Hauptverfasser: Dagbjört Agnarsdóttir, Vaka Kristín Sigurjónsdóttir, Arna Rut Emilsdóttir, Erna Petersen, Gunnlaugur Sigfússon, Ingólfur Rögnvaldsson, Leifur Franzson, Hilary Vernon, Hans Tomas Bjornsson
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2022-07-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
cblB
dilated cardiomyopathy
heart failure
MMAB
Online-Zugang:https://doi.org/10.1002/mgg3.1971
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