TY - JOUR
T1 - Familial kearns-sayre syndrome
AU - Schnitzler, Eugene R.
AU - Robertson, William C.
PY - 1979/8
Y1 - 1979/8
N2 - The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.
AB - The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.
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U2 - 10.1212/wnl.29.8.1172
DO - 10.1212/wnl.29.8.1172
M3 - Article
C2 - 572507
AN - SCOPUS:0018420761
SN - 0028-3878
VL - 29
SP - 1172
EP - 1174
JO - Neurology
JF - Neurology
IS - 8
ER -