[Marinesco-Sjogren syndrome with dominant inheritance--case report].
A case of the Marinesco-Sjögren disease was diagnosed in a woman aged 19 years. In 5 out of 7 siblings cataract and/or nystagmus were found. On the ground of clinical analysis and literature data the classical form of the disease, abortive cases in the family and sporadic cases of the disease are distinguished. Attention is called to common features of the disease and Friedreich's disease and to the possibility of autosomal dominant inheritance, besides typical recessive inheritance of the MS disease.
Martynów
R
R
Katedry Neurologii AM we Wrocławiu.
D000328:Adult; D005260:Female; D006801:Humans; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000235:genetics*
Choroba Marinesco-Sjögrena przekazywana w sposób dominujacy--opis i omówienie przypadku.