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Article

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.

Neuromuscular disorders : NMD - 1 Jan 2006

Cardaioli Elena, Da Pozzo Paola, Cerase Alfonso, Sicurelli Francesco, Malandrini Alessandro, De Stefano Nicola, Stromillo Maria Laura, Battisti Carla, Dotti Maria Teresa, Federico Antonio

Abstract excerpt

The authors report the clinical, neuroimaging, muscle biopsy and mtDNA findings in a patient affected by bilateral hearing loss and mental retardation since infancy, presenting at age 31 years with a rapid deterioration of mental status and ataxia leading to vegetative condition and death at the age of 32 years. Clinical and genetic studies have been also performed in the mother, affected by neurosensorial...

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Identifiers

PMID: 16368237
DOI: 10.1016/j.nmd.2005.11.001

Genes

UCN

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Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.PMID 16368237Read ↗

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