Title |
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
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Published in |
Orphanet Journal of Rare Diseases, December 2011
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DOI | 10.1186/1750-1172-6-87 |
Pubmed ID | |
Authors |
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré |
Abstract |
The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Netherlands | 1 | 25% |
France | 1 | 25% |
Switzerland | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 3 | 17% |
Other | 2 | 11% |
Researcher | 2 | 11% |
Student > Doctoral Student | 1 | 6% |
Student > Ph. D. Student | 1 | 6% |
Other | 3 | 17% |
Unknown | 6 | 33% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 2 | 11% |
Neuroscience | 2 | 11% |
Medicine and Dentistry | 2 | 11% |
Arts and Humanities | 1 | 6% |
Other | 0 | 0% |
Unknown | 8 | 44% |