Cardiomyopathy and sudden cardiac death as a rare presentation of mucolipidosis type III in a family with compound heterozygous variants in GNPTAB

Research Square 2026 Preprint Open access

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Authors: Natalie Stewart, Natasha Henden, Carlos C. Smith-Díaz, Jennifer Rigby, Alexandra Butters, Amy Baker, Laura Catto, Inuli Subasinghe, Laura Yeates, Lucy Elizabeth Geraghty, Jasmine E. L. Follett, David Owen Sillence
+12 more Leah F. Kemp, Ira W. Deveson, Muayad Alasady, Sharon Wilson, Cas Simons, Daniel G. MacArthur, Belinda R. Gray, Johan A Duflou, Mary‐Louise Freckmann, Ebony Richardson, Andreas Zankl, Jodie Ingles
DOI: 10.21203/rs.3.rs-8674450/v1
Cited by: 0
References: 3

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Cardiomyopathy and Myosin Studies

Publication details

Journal / source
Research Square
Publication date
29 January 2026
Document type
Preprint