marinesco-sjogren syndrome with sensori neural deafness and primary optic atrophy
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ID: 134712
1999
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Abstract
Marinesco-Sjogren syndrome (MSS) is a rare genetically determined disorder characterised by bilateral cataract, cerebellar ataxia and mental deficiency. The pattern of inheritance is autosomal recessive but it may be variable. In MSS association of hyperlactacidaemia and hypopyruvicaemia, a defective oxidative phosphorylation in mitochondria, is supposed. We are reporting three patients of MSS along with sensorineural deafness and optic atrophy from a single Indian family.
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| Authors | ;Aleem M A;Raveendran D;Meikandan D;Ramasubramanian D |
| Journal | Journal of global antimicrobial resistance |
| Year | 1999 |
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