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Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

Kellner, Ulrich ; Stöhr, Heidi ; Weinitz, Silke ; Farmand, Ghazaleh ; Weber, Bernhard H. F.



Zusammenfassung

Purpose: To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD). Methods: The brothers were examined clinically and with fundus autofluorescence, near-infrared auto fluorescence, and Spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes ...

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