Literature DB >> 8559379

Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease.

N Howell1, I Kubacka, R Smith, F Frerman, J K Parks, W D Parker.   

Abstract

We report previously undescribed or atypical clinical and biochemical manifestations of the mitochondrial DNA MERRF mutation at nucleotide 8344 in members of a multigenerational family with maternally inherited, highly variable neurodegenerative disorder. The more profound neurologic abnormalities include Leigh disease, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.

Entities:  

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Year:  1996        PMID： 8559379     DOI： 10.1212/wnl.46.1.219

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  15 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 2.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
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Authors:  Kavitha Matam; Noor Ahmad Shaik; Sunil Aggarwal; Sameer Diwale; Babajan Banaganapalli; Jumana Yousuf Al-Aama; Ramu Elango; Pragna Rao; Qurratulain Hasan
Journal:  Mol Genet Genomics       Date:  2014-03-07       Impact factor: 3.291

5.  Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Authors:  Judith Altmann; Boriana Büchner; Aleksandra Nadaj-Pakleza; Jochen Schäfer; Sandra Jackson; Diana Lehmann; Marcus Deschauer; Robert Kopajtich; Ronald Lautenschläger; Klaus A Kuhn; Kathrin Karle; Ludger Schöls; Jörg B Schulz; Joachim Weis; Holger Prokisch; Cornelia Kornblum; Kristl G Claeys; Thomas Klopstock
Journal:  J Neurol       Date:  2016-03-19       Impact factor: 4.849

Review 6.  Mitochondrial DNA: impacting central and peripheral nervous systems.

Authors:  Valerio Carelli; David C Chan
Journal:  Neuron       Date:  2014-12-17       Impact factor: 17.173

7.  "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

Authors:  Michela Catteruccia; Donato Sauchelli; Giacomo Della Marca; Guido Primiano; Cristina Cuccagna; Daniela Bernardo; Milena Leo; Antonella Camporeale; Tommaso Sanna; Alessandro Cianfoni; Serenella Servidei
Journal:  J Neurol       Date:  2015-01-06       Impact factor: 4.849

Review 8.  The genetics of Leigh syndrome and its implications for clinical practice and risk management.

Authors:  Ilene S Ruhoy; Russell P Saneto
Journal:  Appl Clin Genet       Date:  2014-11-13

9.  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Authors:  Ian J Wilson; Phillipa J Carling; Charlotte L Alston; Vasileios I Floros; Angela Pyle; Gavin Hudson; Suzanne C E H Sallevelt; Costanza Lamperti; Valerio Carelli; Laurence A Bindoff; David C Samuels; Passorn Wonnapinij; Massimo Zeviani; Robert W Taylor; Hubert J M Smeets; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2016-01-05       Impact factor: 6.150

Review 10.  Involvement of the Spinal Cord in Mitochondrial Disorders.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Neurosci Rural Pract       Date:  2018 Apr-Jun
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