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

U Kellner, H Stöhr, S Weinitz, G Farmand… - Ophthalmic …, 2017 - Taylor & Francis
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 …

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

U Kellner, H Stöhr, S Weinitz, G Farmand… - Ophthalmic …, 2017 - europepmc.org
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 …

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

U Kellner, H Stöhr, S Weinitz… - Ophthalmic …, 2017 - epub.uni-regensburg.de
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 …

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

U Kellner, H Stöhr, S Weinitz… - Ophthalmic …, 2017 - pubmed.ncbi.nlm.nih.gov
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 …