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Article

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

Ophthalmic genetics - 1 Jan 2000

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

Abstract excerpt

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 autofluorescence, and spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes associated with...

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Source

Identifiers

PMID: 28095071
DOI: 10.1080/13816810.2016.1227459

Genes

MVK

Variants

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Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.PMID 28095071Read ↗

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