Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24436
Abstract: Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% of cases.… read more here.
Keywords: dominant form; diagnosis; arrhythmogenic cardiomyopathy; associated genes ... See more keywords
Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2499
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. read more here.
Keywords: dominant form; case; adrenoleukodystrophy; brainstem dominant ... See more keywords
Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.999419
Abstract: Objectives This study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD). Methods Three affected members from a family with cerebellar ataxia received full neurological, laboratory and… read more here.
Keywords: form linked; brainstem dominant; dominant form; form ... See more keywords