doi: 10.1038/ng798.
Epub 2001 Dec 17.
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Affiliations
- PMID: 11743580
- DOI: 10.1038/ng798
Item in Clipboard
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Nat Genet.
2002 Jan.
Abstract
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Similar articles
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17. Nat Genet. 2002. PMID: 11743579
-
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.Brain. 2007 Apr;130(Pt 4):1062-75. doi: 10.1093/brain/awm014. Epub 2007 Mar 8. Brain. 2007. PMID: 17347251
-
A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.J Neurol Sci. 2006 Feb 15;241(1-2):7-11. doi: 10.1016/j.jns.2005.10.002. Epub 2005 Dec 15. J Neurol Sci. 2006. PMID: 16343542
-
[Molecular genetics of inherited neuropathies].Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Rinsho Shinkeigaku. 2006. PMID: 16541790 Review. Japanese.
-
[Clinical phenotype of Charcot-Marie-Tooth disease (CMT) and familial amyloid polyneuropathy (FAP)].Rinsho Shinkeigaku. 2003 Nov;43(11):769-74. Rinsho Shinkeigaku. 2003. PMID: 15152460 Review. Japanese.
Cited by
-
The clinical maze of mitochondrial neurology.Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9. Nat Rev Neurol. 2013. PMID: 23835535 Free PMC article. Review.
-
Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.Front Aging Neurosci. 2015 Jun 10;7:101. doi: 10.3389/fnagi.2015.00101. eCollection 2015. Front Aging Neurosci. 2015. PMID: 26113818 Free PMC article. Review.
-
Dysfunctional mitochondrial fission impairs cell reprogramming.Cell Cycle. 2016 Dec;15(23):3240-3250. doi: 10.1080/15384101.2016.1241930. Epub 2016 Oct 18. Cell Cycle. 2016. PMID: 27753531 Free PMC article.
-
Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report.Front Neurol. 2022 Oct 24;13:905725. doi: 10.3389/fneur.2022.905725. eCollection 2022. Front Neurol. 2022. PMID: 36353131 Free PMC article.
-
GARS axonopathy: not every neuron's cup of tRNA.Trends Neurosci. 2010 Feb;33(2):59-66. doi: 10.1016/j.tins.2009.11.001. Trends Neurosci. 2010. PMID: 20152552 Free PMC article. Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
Research Materials
