Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2101
Abstract: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes… read more here.
Keywords: dystrophy; limb girdle; variants linked; girdle muscular ... See more keywords
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
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DOI: 10.1186/s13023-024-03056-6
Abstract: Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilities and common daily functioning. The rapid… read more here.
Keywords: neurodevelopmental disorders; trio based; causative variants; diagnostic yield ... See more keywords
Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
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DOI: 10.1186/s40246-024-00657-x
Abstract: Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional burden for the victims’ families and society. Comprehensive investigations are essential to uncover its elusive causes and enable… read more here.
Keywords: sudden cardiac; whole exome; variants juvenile; juvenile sudden ... See more keywords