mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve degeneration with dysarthria and ophthalmoparesis (SANDO).

A variable neurodegenerative phenotype with polymerase gamma mutation / Stricker, S; Prüss, H; Horvath, R; Baruffini, Enrico; Lodi, Tiziana; Siebert, E; Endres, M; Zschenderlein, R; Meisel, A.. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - 80:(2009), pp. 1181-1182. [10.1136/jnnp.2008.166066]

A variable neurodegenerative phenotype with polymerase gamma mutation

BARUFFINI, Enrico;LODI, Tiziana;
2009-01-01

Abstract

mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve degeneration with dysarthria and ophthalmoparesis (SANDO).
A variable neurodegenerative phenotype with polymerase gamma mutation / Stricker, S; Prüss, H; Horvath, R; Baruffini, Enrico; Lodi, Tiziana; Siebert, E; Endres, M; Zschenderlein, R; Meisel, A.. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - 80:(2009), pp. 1181-1182. [10.1136/jnnp.2008.166066]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2294077
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