Article

The analysis of genetic variants in nine patients with Nemaline Myopathy: Implications for diagnosis and genetic counseling

2026-07-20

Abstract excerpt

<title>Abstract</title> <p> Nemaline myopathy (NM) is a rare and hereditary myopathy caused by several related genes have been identified, thus exhibiting significant clinical and genetic heterogeneity. This study retrospectively analyzed 9 patients with NM. We utilized WES testing and bioinformatics analysis were performed on 9 families. Normal Mode Analysis (NMA) was used to evaluate the impact of missense var...

Topics

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

Identifiers and source

Literature Corpus work: cd63caa1-9a53-5866-95f1-f7c11719f4a4
DOI: 10.21203/rs.3.rs-10104013/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The analysis of genetic variants in nine patients with Nemaline Myopathy: Implications for diagnosis and genetic counselingDOI 10.21203/rs.3.rs-10104013/v1Read

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.Semantic proximity Read

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.Semantic proximity Read

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.Semantic proximity Read

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

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.Semantic proximity Read

Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.Semantic proximity Read

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.Semantic proximity Read

[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].Semantic proximity Read

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.Semantic proximity Read

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

A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.Semantic proximity Read

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.Semantic proximity Read