Source:http://linkedlifedata.com/resource/pubmed/id/15591603
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2004-12-13
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pubmed:abstractText |
Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital muscular dystrophy. The clinical picture, biopsy findings, and abnormalities as detected by the magnetic resonance imaging of the two patients are presented.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1024-2708
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
423-6
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pubmed:meshHeading |
pubmed-meshheading:15591603-Child,
pubmed-meshheading:15591603-Electromyography,
pubmed-meshheading:15591603-Family Health,
pubmed-meshheading:15591603-Female,
pubmed-meshheading:15591603-Humans,
pubmed-meshheading:15591603-Laminin,
pubmed-meshheading:15591603-Magnetic Resonance Imaging,
pubmed-meshheading:15591603-Male,
pubmed-meshheading:15591603-Muscle Fatigue,
pubmed-meshheading:15591603-Muscle Hypotonia,
pubmed-meshheading:15591603-Muscles,
pubmed-meshheading:15591603-Muscular Dystrophies,
pubmed-meshheading:15591603-Tomography, X-Ray Computed
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pubmed:year |
2004
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pubmed:articleTitle |
Merosin-deficient congenital muscular dystrophy in two siblings.
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pubmed:affiliation |
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tsing Chung Koon Road, Tuen Mun, Hong Kong. huicm888@hotmail.com
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pubmed:publicationType |
Journal Article,
Case Reports
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