Linked Life Data

11071142

Source:http://linkedlifedata.com/resource/pubmed/id/11071142

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-3-6
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
186-9
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
pubmed:affiliation
Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK. e.mercuri@ic.ac.uk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't