Document Detail


Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.
MedLine Citation:
PMID:  17133513     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
McLeod syndrome is an X-linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome.
Authors:
Ruth H Walker; Hans H Jung; François Tison; Soohee Lee; Adrian Danek
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  22     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-02-05     Completed Date:  2007-03-23     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  244-8     Citation Subset:  IM    
Copyright Information:
(c) 2006 Movement Disorder Society.
Affiliation:
Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu
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MeSH Terms
Descriptor/Qualifier:
Adult
Age Factors
Amino Acid Transport Systems, Neutral / genetics*
Atrial Fibrillation / complications,  pathology,  physiopathology
Brain / pathology
Central Nervous System Diseases / complications,  genetics,  pathology
Chorea / genetics*,  pathology
Chromosomes, Human, X / genetics
Genetic Variation / genetics
Genotype
Humans
Magnetic Resonance Imaging
Male
Muscle Weakness / physiopathology
Muscle, Skeletal / pathology,  physiopathology
Myocardium / pathology
Peripheral Nervous System Diseases / complications,  genetics,  pathology
Phenotype*
Siblings*
Syndrome
Grant Support
ID/Acronym/Agency:
HL54459/HL/NHLBI NIH HHS; R01 HL075716/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Amino Acid Transport Systems, Neutral; 0/XK protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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