Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

Neurobiol. Dis.2017 Feb;98:52-65. Epub 2016 Nov 24

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mice included reduced body weight, altered gait dynamics, and reduced open-field activity. Overt spontaneous or stimulus-sensitive myoclonus was not apparent on the C57BL/6J background or mixed C57BL/6J-BALB/c and C57BL/6J-129S2 backgrounds. Our data confirm that mouse Sgce is a maternally imprinted gene and suggests that short Sgce isoforms may compensate, in part, for deficiency of major and brain-specific Sgce isoforms.

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Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

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