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

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.

Molecular genetics & genomic medicine - 1 Dec 2023

Zhao Tianxue, Xu Shaokun, Liu Siyue, Xu Juan, Zhang Xianfeng, Zhan Yuhong

Abstract excerpt

BACKGROUND: Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG-PFBC remain unclear. METHODS: We present relevant medical data obtained from a patient affected by PFBC with a novel MYORG variant and conducted a mutational analysis of MYORG in her family members. We reviewed all...

Read the complete abstract on PubMed

Topics

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

Share to Basal Ganglia Diseases
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcinosis

Share to Mutation

Share to Neurodegenerative Diseases

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 37680026
DOI: 10.1002/mgg3.2276
PMCID: PMC10724521

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

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.PMID 37680026Read ↗

Evaluation of MYORG mutations as a novel cause of primary familial brain calcificationSemantic proximity Read ↗

Report of a young patient with brain calcifications with a novel homozygous MYORG variant.Semantic proximity Read ↗

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotypeSemantic proximity Read ↗

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implicationsSemantic proximity Read ↗

MYORG Mutation Heterozygosity Is Associated With Brain Calcification.Semantic proximity Read ↗

MYORG is associated with recessive primary familial brain calcificationSemantic proximity Read ↗

Primary Familial Brain Calcification Caused by a Novel Compound Heterozygous Mutation in the MYORG Gene.Semantic proximity Read ↗

A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction.Semantic proximity Read ↗

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.Semantic proximity Read ↗

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic painSemantic proximity Read ↗

Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in the MYORG gene.Semantic proximity Read ↗

Primary familial brain calcifications: genetic and clinical updateSemantic proximity Read ↗

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