Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Identifieur interne : 001781 ( Istex/Checkpoint ); précédent : 001780; suivant : 001782Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Auteurs : Ruth H. Walker [États-Unis] ; Hans H. Jung [Suisse] ; François Tison [France] ; Soohee Lee [États-Unis] ; Adrian Danek [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
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- KwdEn :
Abstract
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21224
Affiliations:
- Allemagne, France, Suisse, États-Unis
- Bavière, District de Haute-Bavière, État de New York
- Bordeaux, Munich
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ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5Le document en format XML
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<front><div type="abstract" xml:lang="en">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. © 2006 Movement Disorder Society</div>
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