Article

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

2026-01-29

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Homozygous or compound heterozygous loss-of-function variants in <italic>GNPTAB</italic> cause mucolipidosis type II/III, a progressive multisystem disorder characterized by skeletal abnormalities, short stature, coarse facial features and cardiorespiratory disease. ML III is milder, with an older age of onset and a less severe phenotype. We report two sibl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 426a3e3a-8308-5891-82a4-d6a3cbef162b
DOI: 10.21203/rs.3.rs-8674450/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cardiomyopathy and sudden cardiac death as a rare presentation of mucolipidosis type III in a family with compound heterozygous variants in GNPTABDOI 10.21203/rs.3.rs-8674450/v1Read

Dilated cardiomyopathy in mucolipidosis type 2.Semantic proximity Read

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.Semantic proximity Read

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.Semantic proximity Read

Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights From Genetic Testing.Semantic proximity Read

Fabry disease cardiomyopathy: A state-of-the-art review.Semantic proximity Read

Familial Severe Non-Ischemic Dilated Cardiomyopathy With Coexisting Likely Pathogenic BAG3 and FLNC Variants: A Case ReportSemantic proximity Read

Fabry disease cardiomyopathy: A practical guide for cardiologists.Semantic proximity Read

Genetics and metabolic cardiomyopathies.Semantic proximity Read

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutationsSemantic proximity Read

Mucolipidosis type II and type III: a systematic review of 843 published cases.Semantic proximity Read

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.Semantic proximity Read

Reconsidering Silent Variant Unveils<i>SGCA</i>’s Role in Atypical CardiomyopathySemantic proximity Read