| pubmed-article:12899872 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0026848 | lld:lifeskim |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0893637 | lld:lifeskim |
| pubmed-article:12899872 | lifeskim:mentions | umls-concept:C0293866 | lld:lifeskim |
| pubmed-article:12899872 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:12899872 | pubmed:dateCreated | 2003-8-5 | lld:pubmed |
| pubmed-article:12899872 | pubmed:abstractText | The syntrophins and dystrobrevins are members of the dystrophin-associated protein complex, and are thought to function as modular adaptors for signalling proteins recruited to the sarcolemmal membrane. We have characterised the expression of the syntrophins (alpha-, beta1-, and beta2-) and alpha-dystrobrevin by immunohistochemistry in normal human muscle and in biopsies from 162 patients with myopathies of unknown aetiology (with normal staining for dystrophin and other dystrophin-associated proteins). Unlike mice, beta2-syntrophin is expressed at the sarcolemma in post-natal human skeletal muscle. Deficiency of alpha-dystrobrevin +/- beta2-syntrophin was present in 16/162 (10%) patients, compared to age-matched controls. All patients presented with congenital-onset hypotonia and weakness, although there was variability in clinical severity. Two major clinical patterns emerged: patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year of life, and two patients with deficiency of alpha-dystrobrevin had congenital muscular dystrophy with complete external ophthalmoplegia. We have sequenced the coding regions of alpha-dystrobrevin and beta2-syntrophin in these patients, and identified a new isoform of dystrobrevin, but have not identified any mutations. This suggests that disease causing mutations occur outside the coding region of these genes, in gene(s) encoding other components of the syntrophin-dystrobrevin subcomplex, or in gene(s) responsible for their post-translational modification and normal localisation. | lld:pubmed |
| pubmed-article:12899872 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12899872 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12899872 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12899872 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12899872 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12899872 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12899872 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:12899872 | pubmed:issn | 0960-8966 | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:KunkelL MLM | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:FroehnerS CSC | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:PetersM FMF | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:JonesK JKJ | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:MowatDD | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:YanoFF | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:NorthK NKN | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:MillsM AMA | lld:pubmed |
| pubmed-article:12899872 | pubmed:author | pubmed-author:ComptonA GAG | lld:pubmed |
| pubmed-article:12899872 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12899872 | pubmed:volume | 13 | lld:pubmed |
| pubmed-article:12899872 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12899872 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12899872 | pubmed:pagination | 456-67 | lld:pubmed |
| pubmed-article:12899872 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:12899872 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12899872 | pubmed:articleTitle | Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. | lld:pubmed |
| pubmed-article:12899872 | pubmed:affiliation | Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, NSW 2145, Westmead, Australia. | lld:pubmed |
| pubmed-article:12899872 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12899872 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:12899872 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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