ArticleNeurogenetics2013
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.Brain : a journal of neurology · 2026Article
- Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.Iranian journal of public health · 2025Review
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.Journal, genetic engineering & biotechnology · 2023Article
- Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.Cell death discovery · 2023Article
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.FEBS open bio · 2022Article
- Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.Annals of clinical and translational neurology · 2022Article
- Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report.Frontiers in neurology · 2022Article
- Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation inNeurology. Genetics · 2021Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients withJournal of clinical neurology (Seoul, Korea) · 2021Article
- Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations.Frontiers in molecular biosciences · 2020Article
- [Analysis ofNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2019Article
- NovelBioMed research international · 2019Article
- Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.Journal of neurology · 2018Article
- Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.Scientific reports · 2017Article
- CMT-linked loss-of-function mutations in GDAP1 impair store-operated CaScientific reports · 2017Article
- CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.Neurology. Genetics · 2015Article
- Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.European journal of human genetics : EJHG · 2014Article
- Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Neurology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. The mutation explains up to 14 % of CMT2 in Finland, where most patients with axonal neuropathy have remained without molecular diagnosis. Only three families out of 28 were found to carry putative disease mutations in the MFN2 gene encoding mitofusin 2. In addition, the MFN2 variant p.V705I was commonly found in our patients, but we provide evidence that this previously described mutation is a common polymorphism and not pathogenic. GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype. Besides distal leg muscle weakness, most patients showed mild proximal weakness, often with asymmetry and pes cavus. Our findings broaden the understanding of GDAP1 mutations in CMT2 phenotypes and provide support for the use of whole-exome sequencing in CMT gene diagnostics.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.