scholarly journals Myoclonic Epilepsy and Ragged Red Fibers (MERRF) Syndrome: Selective Vulnerability of CNS Neurons Does Not Correlate with the Level of Mitochondrial tRNAlysMutation in Individual Neuronal Isolates

1997 ◽  
Vol 17 (20) ◽  
pp. 7746-7753 ◽  
Author(s):  
Li Zhou ◽  
Anne Chomyn ◽  
Giuseppe Attardi ◽  
Carol A. Miller
Keyword(s):  
Selective Vulnerability ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
Cns Neurons ◽  
Merrf Syndrome

Ganglionopathies Associated with MERRF Syndrome: An Original Report

2020 ◽  
Vol 7 (4) ◽  
pp. 419-423
Author(s):  
Maud Michaud ◽  
Tanya Stojkovic ◽  
Thierry Maisonobe ◽  
Anthony Behin ◽  
Benoit Rucheton ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Mitochondrial Diseases ◽  
Sensory Neuropathy ◽  
Nerve Conduction Studies ◽  
Myoclonic Epilepsy ◽  
Sensory Abnormalities ◽  
Ragged Red Fibers ◽  
Original Report ◽  
Merrf Syndrome

Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord/Est/Ile de France (Pitié-Salpêtrière, Paris, France). Seventeen nerve conduction studies (NCS) were available. Five patients had MERRF syndrome and ganglionopathy, a pure sensory neuropathy. All of them displayed ataxia and mild clinical sensory abnormalities. Ganglionopathies have been reported in mitochondrial diseases but never in MERRF syndrome. We suggest that patients presenting with ganglionopathy, especially if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene

1994 ◽  
Vol 17 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Wan Fang ◽  
Chin-Chang Huang ◽  
Nai-Shun Chu ◽  
Cheng-Chun Lee ◽  
Rou-Shayn Chen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Myoclonic Epilepsy ◽  
Chinese Family ◽  
Ragged Red Fibers ◽  
Merrf Syndrome ◽  
Syndrome Report

scholarly journals Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

PLoS ONE ◽  
2010 ◽  
Vol 5 (10) ◽  
pp. e13513 ◽  
Author(s):  
Anja Brinckmann ◽  
Claudia Weiss ◽  
Friederike Wilbert ◽  
Arpad von Moers ◽  
Angelika Zwirner ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
Copy Numbers ◽  
Merrf Syndrome

Myoclonic Epilepsy with Ragged-red Fibers (MERRF): An Immunohistochemical Study of the Brain

1995 ◽  
Vol 5 (2) ◽  
pp. 125-133 ◽  
Author(s):  
Marco Sparaco ◽  
Eric A. Schon ◽  
Salvatore DiMauro ◽  
Eduardo Bonilla
Keyword(s):  
Immunohistochemical Study ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fibers ◽  
The Brain

scholarly journals Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

2021 ◽  
Author(s):  
Tomoya Kawazoe ◽  
Shinsuke Tobisawa ◽  
Keizo Sugaya ◽  
Akinori Uruha ◽  
Kazuhito Miyamoto ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Intranuclear Inclusions ◽  
Ragged Red Fibers
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