Literature DB >> 35957617

Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges.

Cong-Cong Wang1,2,3, Bing Yang1,2,3, Ying Liu1,2,3, Xiao-Li Li1,2,3, Bin Liu1,2,3, Rui-Sheng Duan1,2,3.   

Abstract

Entities:  

Keywords:  PHKA1; glycogen storage disease type IXD; novel mutation; typical myotonic discharges

Mesh：

Year:  2022        PMID： 35957617      PMCID： PMC9532901          DOI： 10.1111/cns.13939

Source DB:  PubMed          Journal:  CNS Neurosci Ther        ISSN： 1755-5930            Impact factor:   7.035


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  5 in total

1.  Glycogen storage disease type IX: High variability in clinical phenotype.

Authors:  Nicholas James Beauchamp; Ann Dalton; Uma Ramaswami; Harri Niinikoski; Karine Mention; Patricio Kenny; Kaija-Leena Kolho; Julian Raiman; John Walter; Eileen Treacy; Stuart Tanner; Mark Sharrard
Journal:  Mol Genet Metab       Date:  2007-08-03       Impact factor: 4.797

2.  Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Authors:  N Preisler; M C Orngreen; A Echaniz-Laguna; P Laforet; E Lonsdorfer-Wolf; S Doutreleau; B Geny; H O Akman; S Dimauro; J Vissing
Journal:  Neurology       Date:  2012-01-11       Impact factor: 9.910

3.  Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Authors:  Wim Wuyts; Edwin Reyniers; Chantal Ceuterick; Katrien Storm; Thierry de Barsy; Jean-Jacques Martin
Journal:  Am J Med Genet A       Date:  2005-02-15       Impact factor: 2.802

4.  A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.

Authors:  Michela Bisciglia; Roseline Froissart; Anne Laure Bedat-Millet; Norma Beatriz Romero; Magali Pettazzoni; Jean-Yves Hogrel; François M Petit; Tanya Stojkovic
Journal:  J Neurol Sci       Date:  2021-03-18       Impact factor: 3.181

Review 5.  Core Clinical Phenotypes in Myotonic Dystrophies.

Authors:  Stephan Wenninger; Federica Montagnese; Benedikt Schoser
Journal:  Front Neurol       Date:  2018-05-02       Impact factor: 4.003
  5 in total

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