| Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. | |
MedLine Citation:
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PMID: 17133513 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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Ruth H Walker; Hans H Jung; François Tison; Soohee Lee; Adrian Danek |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
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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:
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Created Date: 2007-02-05 Completed Date: 2007-03-23 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 244-8 Citation Subset: IM |
Copyright Information:
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(c) 2006 Movement Disorder Society. |
Affiliation:
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Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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HL54459/HL/NHLBI NIH HHS; R01 HL075716/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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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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