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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease leigh syndrome
Comorbidity C0014544|epilepsy
Sentences 3
PubMedID- 22981260 Late-onset leigh syndrome with myoclonic epilepsy with ragged-red fibers.
PubMedID- 21442960 In 9 children malformations of cns were detected, and in single cases epilepsy was associated with leigh syndrome or nf i, and in one child pituitary microadenoma was detected.
PubMedID- 20332385 A novel presentation of inappropriate antidiuretic hormone secretion in leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial dna 8344a>g mutation.

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