Article

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

2024-10-04

Abstract excerpt

<h4>Introduction</h4> Structural variants (SVs) of the nebulin gene ( NEB ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle...

Topics

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

Identifiers and source

Literature Corpus work: 84d001b7-eeb1-540d-b882-96bf4924af28
DOI: 10.1101/2024.10.04.24313542

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletionsDOI 10.1101/2024.10.04.24313542Read

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.Semantic proximity Read

Mutation update: the spectra of nebulin variants and associated myopathies.Semantic proximity Read

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.Semantic proximity Read

Nebulin mutations in autosomal recessive nemaline myopathy: an update.Semantic proximity Read

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effectsSemantic proximity Read

An integrated diagnosis strategy for congenital myopathies.Semantic proximity Read

Phenotypic characterization of dominantly inherited distal nebulin myopathy.Semantic proximity Read

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.Semantic proximity Read

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.Semantic proximity Read

Genetic and Structural Variations in Czech Patients With Congenital Myopathies.Semantic proximity Read

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.Semantic proximity Read

Nebulin--a giant chameleon.Semantic proximity Read