TY - JOUR
T1 - Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy
AU - Herzberg, N. H.
AU - Van Schooneveld, M. J.
AU - Bleeker-Wagemakers, E. M.
AU - Zwart, R.
AU - Cremers, F. P.M.
AU - Van der Knaap, M. S.
AU - Bolhuis, P. A.
AU - De Visser, M.
PY - 1993
Y1 - 1993
N2 - Mitochondrial DNA (mtDNA) was deleted in a patient with Kearns-Sayre syndrome (KSS) presenting with a choroideremia-like fundus picture instead of pigmentary retinopathy. No evidence for X-linked choroideremia was present, and because of the strong association between KSS and deleted mtDNA, we suggest that choroideremia is a phenocopy and can be part of KSS.
AB - Mitochondrial DNA (mtDNA) was deleted in a patient with Kearns-Sayre syndrome (KSS) presenting with a choroideremia-like fundus picture instead of pigmentary retinopathy. No evidence for X-linked choroideremia was present, and because of the strong association between KSS and deleted mtDNA, we suggest that choroideremia is a phenocopy and can be part of KSS.
UR - http://www.scopus.com/inward/record.url?scp=0027390896&partnerID=8YFLogxK
U2 - https://doi.org/10.1212/wnl.43.1_part_1.218
DO - https://doi.org/10.1212/wnl.43.1_part_1.218
M3 - Article
C2 - 8423892
SN - 0028-3878
VL - 43
SP - 218
EP - 221
JO - Neurology
JF - Neurology
IS - 1
ER -