Literature DB >> 32626810

Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity.

Josef Finsterer1.   

Abstract

Entities:  

Keywords:  CLCN1; POLG1; eye; mitochondrial; mtDNA; myotonia; ophthalmologic; vision

Year:  2020        PMID： 32626810      PMCID： PMC7328424          DOI： 10.1002/mdc3.12962

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  5 in total

Review 1.  The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Authors:  Carmela Scuderi; Eugenia Borgione; Filippa Castello; Mariangela Lo Giudice; Sandro Santa Paola; Mariaconcetta Giambirtone; Francesco Domenico Di Blasi; Maurizio Elia; Carmelo Amato; Santina Città; Catalda Gagliano; Giuliano Barbarino; Girolamo Aurelio Vitello; Sebastiano Antonino Musumeci
Journal:  Neuromuscul Disord       Date:  2015-01-19       Impact factor: 4.296

2.  Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.

Authors:  C Tzoulis; M Papingji; T Fiskestrand; L S Røste; L A Bindoff
Journal:  Acta Neurol Scand Suppl       Date:  2009

3.  "Twitching" and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

Authors:  Martje G Pauly; Sinem Tunc; Tobias Bäumer; Gabriele Gillessen-Kaesbach; Alexander Münchau
Journal:  Mov Disord Clin Pract       Date:  2019-11-12

4.  A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

Authors:  P McKelvie; R Marotta; D R Thorburn; J Chin; S Punchihewa; S Collins
Journal:  Neuromuscul Disord       Date:  2012-02-21       Impact factor: 4.296

5.  POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Authors:  Bernt A Engelsen; Charalampos Tzoulis; Bjørn Karlsen; Atle Lillebø; Liv M Laegreid; Jan Aasly; Massimo Zeviani; Laurence A Bindoff
Journal:  Brain       Date:  2008-01-30       Impact factor: 13.501
  5 in total

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