Title: Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings
Authors: Louw, Jacoba ×
Corveleyn, Anniek
Jia, Yaojuan
Iqbal, Sajid
Boshoff, Derize
Gewillig, Marc
Peeters, Hilde
Moerman, Philippe
Devriendt, Koenraad #
Issue Date: Sep-2014
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:57 issue:9 pages:532-5
Article number: S1769-7212(14)00136-0
Abstract: Two siblings from consanguineous parents of Turkish descent presented with isolated dilated cardiomyopathy, leading to early death in infancy. The diagnosis of mitogenic cardiomyopathy was made histologically.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Diagnosis
Laboratory for Genetics of Human Development
Cardiovascular Developmental Biology
Department of Health and Technology - UC Leuven
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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