| pubmed-article:17897828 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17897828 | lifeskim:mentions | umls-concept:C0686353 | lld:lifeskim |
| pubmed-article:17897828 | lifeskim:mentions | umls-concept:C0348026 | lld:lifeskim |
| pubmed-article:17897828 | lifeskim:mentions | umls-concept:C0699748 | lld:lifeskim |
| pubmed-article:17897828 | lifeskim:mentions | umls-concept:C0220825 | lld:lifeskim |
| pubmed-article:17897828 | lifeskim:mentions | umls-concept:C0376249 | lld:lifeskim |
| pubmed-article:17897828 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:17897828 | pubmed:dateCreated | 2008-2-4 | lld:pubmed |
| pubmed-article:17897828 | pubmed:abstractText | We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence analysis. Calpainopathies (8%) and dysferlinopathies (5%) are the most common causes of LGMD in Australia. In contrast to European populations, cases of LGMD2I (due to mutations in FKRP) are rare in Australasia (3%). We have identified a cohort of patients in whom all common disease candidates have been excluded, providing a valuable resource for identification of new disease genes. Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients. In addition, we have identified a group of patients with unidentified forms of LGMD and with markedly abnormal dysferlin localization that does not correlate with fiber regeneration. This pattern is mimicked in primary caveolinopathy, suggesting a subset of these patients may also possess mutations within proteins required for membrane targeting of dysferlin. | lld:pubmed |
| pubmed-article:17897828 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17897828 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17897828 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17897828 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17897828 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:17897828 | pubmed:issn | 0960-8966 | lld:pubmed |
| pubmed-article:17897828 | pubmed:author | pubmed-author:ChiotisMariaM | lld:pubmed |
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| pubmed-article:17897828 | pubmed:author | pubmed-author:LiuYe VYV | lld:pubmed |
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| pubmed-article:17897828 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17897828 | pubmed:volume | 18 | lld:pubmed |
| pubmed-article:17897828 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17897828 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17897828 | pubmed:pagination | 34-44 | lld:pubmed |
| pubmed-article:17897828 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:17897828 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:17897828 | pubmed:articleTitle | Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. | lld:pubmed |
| pubmed-article:17897828 | pubmed:affiliation | Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia. | lld:pubmed |
| pubmed-article:17897828 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17897828 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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