Article

Identification of Novel Variants in 8 Families With Meige Syndrome Using Whole-exome Sequencing

2021-08-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Meige syndrome is a type of cranial dystonia characterized by blepharospasm and infraorbital dystonia and may be related to movement disorders of the mandibular and facial muscles, mouth, jaw, tongue, pharynx and cervical muscles. However, the etiopathogenesis of this disease condition remains unknown. Our present study aimed to find clues to the pathogenic fact...

Topics

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

Identifiers and source

Literature Corpus work: db5e32ad-3495-54c7-af52-b6b4ef3d087b
DOI: 10.21203/rs.3.rs-783526/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of Novel Variants in 8 Families With Meige Syndrome Using Whole-exome SequencingDOI 10.21203/rs.3.rs-783526/v1Read

A novel variant of NEMF in a family with congenital fibrosis of the extraocular muscles: a case report and literature reviewSemantic proximity Read

Recent genetic advances in early-onset dystonia.Semantic proximity Read

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingSemantic proximity Read

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.Semantic proximity Read

Exome-wide rare variant analysis in familial essential tremor.Semantic proximity Read

Monogenic variants in dystonia: an exome-wide sequencing study.Semantic proximity Read

Mutation screening of AOPEP variants in a large dystonia cohort.Semantic proximity Read

Novel Hemizygous Missense Variation in AFF2 Gene Underlies Fragile XE SyndromeSemantic proximity Read

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingSemantic proximity Read

The expanding clinical and genetic spectrum of ANO3 dystonia.Semantic proximity Read

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.Semantic proximity Read

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.Semantic proximity Read