Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report

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Published inMovement disorders clinical practice (Hoboken, N.J.) Vol. 9; no. 6; pp. 821 - 824
Main Authors Torres, Viviana, Painous, Cèlia, Santacruz, Pilar, Sánchez, Aurora, Sanz, Cristina, Grau‐Junyent, Josep M., Muñoz, Esteban
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.08.2022
Wiley Subscription Services, Inc
Subjects
Case Report
Case Reports
chorea
creatine kinase
McLeod syndrome
neuroacanthocytosis
McLeod syndrome
chorea
creatine kinase
neuroacanthocytosis
Online AccessGet full text
ISSN2330-1619
2330-1619
DOI10.1002/mdc3.13502

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Author Painous, Cèlia
Torres, Viviana
Sánchez, Aurora
Santacruz, Pilar
Sanz, Cristina
Grau‐Junyent, Josep M.
Muñoz, Esteban
AuthorAffiliation 5 Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain
4 Laboratory of Muscle Research and Mitochondrial Function, Department of Internal Medicine Hospital Clínic of Barcelona Barcelona Spain
1 Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociencies Hospital Clínic of Barcelona Barcelona Spain
7 European Reference Network‐Rare Neurological Diseases (ERN‐RND) Barcelona Spain
6 University of Barcelona Barcelona Spain
2 Biochemistry and Molecular Genetics Department Centre de Diagnòstic Biomèdic, Hospital Clínic of Barcelona Barcelona Spain
3 Blood Bank and Transfusion Service Banc de Sang i Teixits, Hospital Clínic of Barcelona Barcelona Spain
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10.5334/tohm.583
10.1001/jamaneurol.2018.2166
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10.1212/NXG.0000000000000328
10.1002/ana.10035
10.1091/mbc.E19-08-0439-T
10.1136/jnnp.2003.026781
10.1002/mds.21536
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creatine kinase
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References 2008; 14
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2004; 75
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References_xml – volume: 5
  issue: 3
  year: 2019
  article-title: Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
  publication-title: Neurol Genet
– volume: 22
  start-page: 1358
  issue: 9
  year: 2007
  end-page: 1361
  article-title: Phenotypic variability of a distinct deletion in McLeod syndrome
  publication-title: Mov Disord
– volume: 15
  start-page: 1282
  issue: 6
  year: 2000
  end-page: 1284
  article-title: McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
  publication-title: Mov Disor
– volume: 14
  start-page: 364
  issue: 4
  year: 2008
  end-page: 366
  article-title: The McLeod syndrome without acanthocytes
  publication-title: Parkinsonism Relat Disord
– volume: 75
  start-page: 1200
  issue: 8
  year: 2004
  end-page: 1201
  article-title: White matter abnormalities on MRI in neuroacanthocytosis
  publication-title: J Neurol Neurosurg Psychiatry
– volume: 11
  start-page: 1
  issue: 1
  year: 2021
  end-page: 6
  article-title: Neuroacanthocytosis” – overdue for a taxonomic update
  publication-title: Tremor Other Hyperkinet Mov (NY)
– year: 1993
– volume: 75
  start-page: 1554
  issue: 12
  year: 2018
  end-page: 1562
  article-title: Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: a review
  publication-title: JAMA Neurol
– volume: 31
  start-page: 2425
  issue: 22
  year: 2020
  end-page: 2436
  article-title: XK is a partner for VPS13A: a molecular link between chorea‐acanthocytosis and McLeod syndrome
  publication-title: Mol Biol Cell
– volume: 50
  start-page: 755
  issue: 6
  year: 2001
  end-page: 764
  article-title: McLeod neuroacanthocytosis: genotype and phenotype
  publication-title: Ann Neurol
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  ident: e_1_2_6_6_1
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SubjectTerms Case Report
Case Reports
chorea
creatine kinase
McLeod syndrome
neuroacanthocytosis
Title Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report
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