Clinical spectrum of mitochondrial DNA mutation at base pair 8344

Author:

Berkovic S.F.,Shoubridge E.A.,Andermann F.,Andermann E.,Carpenter S.,Karpati G.

Publisher

Elsevier BV

Subject

General Medicine

Reference5 articles.

1. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation;Schoffner;Cell,1990

2. Rapid detection of the A→G (8344) mutation of mtDNA in Italian families with myoclonus-epilepsy and ragged red fibres (MERRF);Zeviani;Am J Hum Genet,1991

3. Classification of progressive myoclonus epilepsies and related disorders;Marseille Consensus Group;Ann Neurol,1990

4. Myoclonus epilepsy and ragged-red fibers (MERRF) 1: a clinical, pathological, biochemical, magnetic resonance spectroscopic and positron emission tomographic study;Berkovic;Brain,1989

5. Mitochondrial dysfunction in multiple symmetric lipomatosis;Berkovic;Ann Neurol,1991

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3. MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis;European Annals of Otorhinolaryngology, Head and Neck Diseases;2019-04

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