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Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)

✍ Scribed by J. Arpa; Y. Campos; M. Gutiérrez-Molina; M-A. Martin-Casanueva; A. Cruz-Martínez; M-C. Pérez-Conde; R. López-Pajares; M-C. Morales; J. Tatay; T. Lacasa; P. Barreiro; J. Arenas


Book ID
109335655
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
750 KB
Volume
96
Category
Article
ISSN
0001-6314

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Tissue segregation of a heteroplasmic mt
✍ P. Lertrit; A. S. Noer; E. Byrne; S. Marzuki 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 548 KB

The distribution of the causal 8344A-->G mtDNA mutation has been examined in six tissues of a patient with myoclonic epilepsy with ragged red fibers (MERRF), to study the developmental genetics of this type of mitochondrial disorder, and to determine the pathophysiological importance of the mtDNA he