| pubmed-article:11071142 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C1551338 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0699743 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0881827 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0205307 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0376333 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0175668 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:11071142 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:11071142 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:11071142 | pubmed:dateCreated | 2001-3-6 | lld:pubmed |
| pubmed-article:11071142 | pubmed:abstractText | We describe two Scottish siblings affected by a form of congenital muscular dystrophy characterised by a severe clinical phenotype, similar to that observed in the 6q-linked merosin-deficient CMD but in whom brain MRI and cognitive development were normal. The maximal function achieved in the 2 siblings was sitting independently. Serum CK were grossly elevated and the skin and muscle biopsies showed a severe reduction of merosin in both. The normal brain MRI and normal cognitive development distinguish this form from Fukuyama congenital muscular dystrophy, muscle-eye-brain disease or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or mental retardation. Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD. | lld:pubmed |
| pubmed-article:11071142 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11071142 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11071142 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11071142 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11071142 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11071142 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11071142 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11071142 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:11071142 | pubmed:issn | 0174-304X | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:JungbluthHH | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:BrownS CSC | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:SewryC ACA | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:MuntoniFF | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:BrockingtonMM | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:ManzurAA | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:MercuriEE | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:CounsellSS | lld:pubmed |
| pubmed-article:11071142 | pubmed:author | pubmed-author:DeVileCC | lld:pubmed |
| pubmed-article:11071142 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11071142 | pubmed:volume | 31 | lld:pubmed |
| pubmed-article:11071142 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11071142 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11071142 | pubmed:pagination | 186-9 | lld:pubmed |
| pubmed-article:11071142 | pubmed:dateRevised | 2008-1-16 | lld:pubmed |
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| pubmed-article:11071142 | pubmed:meshHeading | pubmed-meshheading:11071142... | lld:pubmed |
| pubmed-article:11071142 | pubmed:meshHeading | pubmed-meshheading:11071142... | lld:pubmed |
| pubmed-article:11071142 | pubmed:meshHeading | pubmed-meshheading:11071142... | lld:pubmed |
| pubmed-article:11071142 | pubmed:meshHeading | pubmed-meshheading:11071142... | lld:pubmed |
| pubmed-article:11071142 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11071142 | pubmed:articleTitle | Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? | lld:pubmed |
| pubmed-article:11071142 | pubmed:affiliation | Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK. e.mercuri@ic.ac.uk | lld:pubmed |
| pubmed-article:11071142 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11071142 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:11071142 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:79147 | entrezgene:pubmed | pubmed-article:11071142 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11071142 | lld:pubmed |
