Phenotype and genotype determine the diagnosis of MERRF or MERRF plus
نویسندگان
چکیده
منابع مشابه
Merrf Syndrome and Refractory Status Epilepticus
MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease maternally-inherited. In this progressive disorder, status epilepticus is common and highly resistant to treatment including generalized anesthesia. We report two cases with Merrf syndrome (sister and brother), presented with status epilepticus refractory even to Thiopental, Propofol and Midazolam. In the s...
متن کاملScotosensitive myoclonic seizures in MERRF.
A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...
متن کاملUnusual presentations of patients with the mitochondrial MERRF mutation A8344G.
MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted hi...
متن کاملMutation Causes Merrf Syndrome Phe a Novel Mitochondrial Trna
A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytoc...
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ژورنال
عنوان ژورنال: European Annals of Otorhinolaryngology, Head and Neck Diseases
سال: 2020
ISSN: 1879-7296
DOI: 10.1016/j.anorl.2018.12.003