ReviewNeuromolecular medicine2006
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
Review in Neuromolecular medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 49 citations in OpenAlex.
- Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.Scientific reports · 2025Article
- Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Orphanet journal of rare diseases · 2017Review
- Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.Colombia medica (Cali, Colombia) · 2015Article
- Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.Neurogenetics · 2013Article
- SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.Journal of neurology · 2012Article
- Advances in the laboratory evaluation of peripheral neuropathies.Current neurology and neuroscience reports · 2012Review
- Mediator and human disease.Seminars in cell & developmental biology · 2011Review
- Article
- Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Current neurology and neuroscience reports · 2011Review
- The Arabidopsis thaliana Med25 mediator subunit integrates environmental cues to control plant development.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.Annals of neurology · 2011Article
- Update on Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2011Review
- Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.PLoS genetics · 2010Article
- Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).Neuromolecular medicine · 2009Article
- Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.Journal of cellular and molecular medicine · 2008Article
- Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.Neuropediatrics · 2008Article
- A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.Journal of human genetics · 2008Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families with CMT. On the other hand, in countries with a high prevalence of consanguinity this mode of inheritance accounts, likely, for the vast majority of CMT phenotypes. Like dominant forms, autosomal-recessive forms are generally subdivided into demyelinating forms (autosomal-recessive CMT1: ARCMT1 or CMT4) and axonal forms (ARCMT2). Until now, demyelinating ARCMT were more extensively studied at the genetic level than the axonal forms. Although the latter are undoubtedly the rarest forms among the heterogeneous group of CMT, three distinct forms have been genetically mapped and recent studies in the past 4 yr provided evidence that their respective causing genes have been characterized. Indeed, gene defects in encoding A-type lamins (LMNA), encoding Ganglioside-induced Differentiation-Associated Protein-1 (GDAP1) and encoding the mediator of RNA polymerase II transcription, subunit 25 homolog (MED25) have been identified in ARCMT2 subtypes. Given the clinical, electrophysiological and histological heterogeneity of CMT2, it is likely that unreported forms of ARCMT2, related to novel genes, remain to be discovered, leading to an even more complex classification. However, our goal in this review is to provide the reader with a clear view on the known genes and mechanisms involved in ARCMT2 and their associated phenotypes.
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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.