Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

The International journal of neuroscience - 1 Nov 2024

Sadr Zahra, Rohani Mohammad, Jamali Payman, Alavi Afagh

Abstract excerpt

Mutations in ERLIN2 and MFN2 lead to the development of spastic paraplegia-18 (SPG18) and Charcot-Marie-Tooth type-2A (CMT2A), respectively. These disorders are unified by the fact that both can be termed inherited axonopathies. With whole-exome sequencing (WES), more patients of neurological disorders with clinical overlaps receive a genetic result than ever before. This study describes an Iranian family who...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to GTP Phosphohydrolases

Share to Membrane Proteins

Share to Mitochondrial Proteins

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 37712628
DOI: 10.1080/00207454.2023.2260091

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.PMID 37712628Read ↗

Novel variants and rare clinical presentations in MFN2-related Charcot-Marie-Tooth disease: Insights from 10 families.Semantic proximity Read ↗

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).Semantic proximity Read ↗

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.Semantic proximity Read ↗

Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.Semantic proximity Read ↗

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.Semantic proximity Read ↗

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.Semantic proximity Read ↗

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.Semantic proximity Read ↗

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.Semantic proximity Read ↗

Expansion of the genetic landscape of ERLIN2-related disorders.Semantic proximity Read ↗

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Semantic proximity Read ↗

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.