TY - JOUR
T1 - Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
AU - Bosch, Annet M.
AU - Kamsteeg, Erik-Jan
AU - Rodenburg, Richard J.
AU - van Deutekom, Arend W.
AU - Buis, Dennis R.
AU - Engelen, Marc
AU - Cobben, Jan-Maarten
PY - 2018
Y1 - 2018
N2 - Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
AB - Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85053195780&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30225196
U2 - https://doi.org/10.1016/j.ymgmr.2018.09.002
DO - https://doi.org/10.1016/j.ymgmr.2018.09.002
M3 - Article
C2 - 30225196
SN - 2214-4269
VL - 17
SP - 19
EP - 21
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
ER -