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A novelPCLN-1gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

✍ Scribed by Sami A. Sanjad; Ali Hariri; Zouhayr M. Habbal; Richard P. Lifton


Publisher
Springer
Year
2007
Tongue
English
Weight
183 KB
Volume
22
Category
Article
ISSN
0931-041X

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## Abstract The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial–cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family wi