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The phenotypic presentations of patients carrying <jats:italic>GDAP1<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p>We report the development of a publicly accessible LSDB for the <jats:italic>GDAP1<\/jats:italic> gene. The <jats:italic>GDAP1<\/jats:italic> LSDB has adopted the Leiden Open-source Variation Database (LOVD) software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the <jats:italic>GDAP1<\/jats:italic> database is illustrated by the finding that <jats:italic>GDAP1<\/jats:italic> mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the <jats:italic>GDAP1<\/jats:italic> LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-6-87","type":"journal-article","created":{"date-parts":[[2011,12,27]],"date-time":"2011-12-27T07:14:26Z","timestamp":1324970066000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K"],"prefix":"10.1186","volume":"6","author":[{"given":"Julien","family":"Cassereau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Chevrollier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Verny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Procaccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Reynier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Ferr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,12,26]]},"reference":[{"key":"361_CR1","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","volume":"1","author":"AE Emery","year":"1991","unstructured":"Emery AE: Population frequencies of inherited neuromuscular diseases--a world survey. 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