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P59 A novel mutation in the nerve-specific 5 UTR of the Cx32 gene causing CMTX1

✍ Scribed by S.M. Murphy; J.M. Polke; H. Manji; S. Brandner; H. Houlden; M.M. Reilly


Book ID
117670223
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
61 KB
Volume
20
Category
Article
ISSN
0960-8966

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Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev