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Autosomal recessive lipid storage myopathy (probable carnitine deficiency).
Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine d...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
1979
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1012589/ https://ncbi.nlm.nih.gov/pubmed/537015 |
| タグ: |
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