Disease #00163

Official abbreviation MELAS SYNDROME
Name MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
OMIM ID 540000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 12 genes MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TC, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1, MT-TS2
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1 entry on 1 page. Showing entry 1.
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00000012 - F Germany? Germany? Germany? ? - - A 51-year-old woman. The phenotype was characterised by a multisytemic disease presentation with myopathy, spinal ataxia, deafness, cataract and cognitive deficit. These symptoms do not fit with a distinct mitochondrial syndrome such as MELAS or MERRF, but affection of muscle and central nerve system together with inner ear is highly indicative of a mitochondrial aetiology. MELAS SYNDROME, MERRF - MT-TP - 0 1 Lishuang Shen
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