MEHMO
MIM.300148 Xp22.13-p21.1
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity.
Etiology
locus Xp21.1-p22.13
Synopsis
lactic acidosis
muscle biopsy: markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain
mitochondrial proliferation
lipid storage anomalies
Electron microscopy
abnormal and enlarged mitochondria with concentric cristae and electron dense bodies
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