Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Publication
, Journal Article
Baxter, RV; Ben Othmane, K; Rochelle, JM; Stajich, JE; Hulette, C; Dew-Knight, S; Hentati, F; Ben Hamida, M; Bel, S; Stenger, JE; Gilbert, JR ...
Published in: Nat Genet
January 2002
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.
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Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
January 2002
Volume
30
Issue
1
Start / End Page
21 / 22
Location
United States
Related Subject Headings
- Tunisia
- Nerve Tissue Proteins
- Mutation, Missense
- Humans
- Haplotypes
- Genes, Recessive
- Developmental Biology
- DNA Mutational Analysis
- Codon, Nonsense
- Chromosomes, Human, Pair 8
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Baxter, R. V., Ben Othmane, K., Rochelle, J. M., Stajich, J. E., Hulette, C., Dew-Knight, S., … Vance, J. M. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet, 30(1), 21–22. https://doi.org/10.1038/ng796
Baxter, Rachel V., Kamel Ben Othmane, Julie M. Rochelle, Jason E. Stajich, Christine Hulette, Susan Dew-Knight, Faycal Hentati, et al. “Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.” Nat Genet 30, no. 1 (January 2002): 21–22. https://doi.org/10.1038/ng796.
Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 Jan;30(1):21–2.
Baxter, Rachel V., et al. “Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.” Nat Genet, vol. 30, no. 1, Jan. 2002, pp. 21–22. Pubmed, doi:10.1038/ng796.
Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 Jan;30(1):21–22.
Published In
Nat Genet
DOI
ISSN
1061-4036
Publication Date
January 2002
Volume
30
Issue
1
Start / End Page
21 / 22
Location
United States
Related Subject Headings
- Tunisia
- Nerve Tissue Proteins
- Mutation, Missense
- Humans
- Haplotypes
- Genes, Recessive
- Developmental Biology
- DNA Mutational Analysis
- Codon, Nonsense
- Chromosomes, Human, Pair 8