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).| File | Dimensione | Formato | |
|---|---|---|---|
|
Stricker abs.pdf
non disponibili
Tipologia:
Documento in Post-print
Licenza:
NON PUBBLICO - Accesso privato/ristretto
Dimensione
326.31 kB
Formato
Adobe PDF
|
326.31 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
