Literature DB >> 21996807

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Valentina Emmanuele1, David S Silvers, Evangelia Sotiriou, Kurenai Tanji, Salvatore DiMauro, Michio Hirano.   

Abstract

A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.
Copyright © 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID： 21996807      PMCID： PMC3197731          DOI： 10.1002/mus.22149

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  16 in total

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4.  Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.

Authors:  G Uziel; F Carrara; T Granata; E Lamantea; M Mora; M Zeviani
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5.  A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

Authors:  M Yoneda; Y Tanno; S Horai; T Ozawa; T Miyatake; S Tsuji
Journal:  Biochem Int       Date:  1990-08

6.  A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

Authors:  Yutaka Nishigaki; Saba Tadesse; Eduardo Bonilla; Dikoma Shungu; Stephen Hersh; Bronya J B Keats; Charles I Berlin; Morton F Goldberg; Jerry Vockley; Salvatore DiMauro; Michio Hirano
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8.  Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Authors:  I J Holt; A E Harding; J A Morgan-Hughes
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9.  A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Authors:  Y Goto; K Tsugane; Y Tanabe; I Nonaka; S Horai
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2.  Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T > C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2].

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3.  Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia.

Authors:  E Kelland; C A Rupar; Asuri N Prasad; K Y Tay; A Downie; C Prasad
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4.  The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

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8.  Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation.

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9.  A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

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  9 in total

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