Article

M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature

2021-08-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Salih myopathy (SALMY), also known as early-onset myopathy with fatal cardiomyopathy (EOMFC) is a rare, heterogeneous, and severe form of titinopathies with autosomal recessive inherited neuromuscular disorders that affects both skeletal and cardiac muscles. It was previously identified only in the Arab population with unknown incidence. <italic>TTN</italic> mut...

Topics

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

Identifiers and source

Literature Corpus work: f960962e-2dd7-51eb-8bb2-2c16617dc1d6
DOI: 10.21203/rs.3.rs-743096/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the LiteratureDOI 10.21203/rs.3.rs-743096/v1Read

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.Semantic proximity Read

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?Semantic proximity Read

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.Semantic proximity Read

A rising titan: TTN review and mutation update.Semantic proximity Read

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.Semantic proximity Read

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of CardiomyopathiesSemantic proximity Read

[Titin-related muscle disorders: an expanding spectrum].Semantic proximity Read

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.Semantic proximity Read

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.Semantic proximity Read

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian SubcontinentSemantic proximity Read

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.Semantic proximity Read

Update on Congenital Myopathies in AdulthoodSemantic proximity Read