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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1994-11-10
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pubmed:abstractText |
We report a family with three members affected by a typically X-linked McLeod syndrome. In the proband a very weak positivity for antigens of the Kell group was detected. His sister showed a normal antigenic pattern. We emphasize the prominent neurological picture characterized by a choreic syndrome with atrophy of the caudate nucleus on MRI, psychiatric disturbances, peripheral nerve and muscle biopsy findings indicating slight neuromuscular involvement, and cardiac abnormalities. The differential diagnosis is discussed.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0022-510X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
124
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
89-94
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7931427-Aged,
pubmed-meshheading:7931427-Aged, 80 and over,
pubmed-meshheading:7931427-Blotting, Southern,
pubmed-meshheading:7931427-Brain,
pubmed-meshheading:7931427-Cardiomyopathy, Dilated,
pubmed-meshheading:7931427-Chorea,
pubmed-meshheading:7931427-Electrocardiography,
pubmed-meshheading:7931427-Erythrocytes,
pubmed-meshheading:7931427-Genetic Linkage,
pubmed-meshheading:7931427-Humans,
pubmed-meshheading:7931427-Kell Blood-Group System,
pubmed-meshheading:7931427-Magnetic Resonance Imaging,
pubmed-meshheading:7931427-Male,
pubmed-meshheading:7931427-Middle Aged,
pubmed-meshheading:7931427-Muscle, Skeletal,
pubmed-meshheading:7931427-Neuromuscular Diseases,
pubmed-meshheading:7931427-Pedigree,
pubmed-meshheading:7931427-Sural Nerve,
pubmed-meshheading:7931427-Syndrome,
pubmed-meshheading:7931427-X Chromosome
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pubmed:year |
1994
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pubmed:articleTitle |
Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family.
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pubmed:affiliation |
Institute of Neurological Sciences, University of Siena, Policlinico Le Scotte, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
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