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

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

BMC medical genomics - 30 Jun 2021

Kanwal Sumaira, Choi Yu JIn, Lim Si On, Choi Hee Ji, Park Jin Hee, Nuzhat Rana, Khan Aneela, Perveen Shazia, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients. METHODS: This study was performed to identify pathogenic mutations in five consanguineous Pakistani CMT families negative for PMP22 duplication. Genomic screening was performed by application of whole...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Consanguinity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to GTP Phosphohydrolases

Share to Homozygote

Share to Intracellular Signaling Peptides and Proteins

Share to Mitochondrial Proteins

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 34193129
DOI: 10.1186/s12920-021-01019-5
PMCID: PMC8247155

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.PMID 34193129Read ↗

Novel homozygous mutations in Pakistani families with recessive Charcot-Marie-Tooth diseaseSemantic proximity Read ↗

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.Semantic proximity Read ↗

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.Semantic proximity Read ↗

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

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.Semantic proximity Read ↗

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.Semantic proximity Read ↗

Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in TaiwanSemantic proximity Read ↗

Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesSemantic proximity Read ↗

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.Semantic proximity Read ↗

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