CLN6 Mutations May Lead to Batten Without Vision Loss, 3 Cases Show

CLN6 Mutations May Lead to Batten Without Vision Loss, 3 Cases Show

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CLN6 Mutations May Lead to Batten Without Vision Loss, 3 Cases Show

Mutations in the CLN6 gene — which have been associated with different forms of Batten disease — may lead to the development of an atypical form of juvenile Batten that does not cause vision loss, according to a study reporting the cases of three patients from two Greek-Cypriot families. Notably, a new, de novo (non-inherited) disease-causing CLN6 mutation was identified in one of the patients, likely marking the first of such reports. De novo mutations…

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