Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Top Cited Papers
- 17 December 2001
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 30 (1) , 21-22
- https://doi.org/10.1038/ng796
Abstract
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families—two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.Keywords
This publication has 8 references indexed in Scilit:
- The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A diseaseNature Genetics, 2001
- Linkage of a new locus for autosomal recessive axonal form of Charcot–Marie–Tooth disease to chromosome 8q21.3Neuromuscular Disorders, 2001
- The Many Faces of Charcot-Marie-Tooth DiseaseArchives of Neurology, 2000
- Fine localization of the CMT4A locus using a PAC contig and haplotype analysisneurogenetics, 1998
- Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8qHuman Molecular Genetics, 1993
- Isolation and mapping to 17p12 – 13 of the human homologous of the murine growth arrest specific Gas-3 geneHuman Molecular Genetics, 1992
- Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular AtrophyArchives of Neurology, 1968
- Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular AtrophyArchives of Neurology, 1968