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G.P.10.15 Genotype–phenotype correlation and identification of new mutations in non-dystrophic myotonias

✍ Scribed by N. Dupre; N. Chrestian; D. Brunet; J. Bouchard; J. Mathieu; J. Puymirat

Book ID
116793055
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
46 KB
Volume
17
Category
Article
ISSN
0960-8966

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## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,