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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
 

Citation

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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