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标题:Autosomal recessive lipid storage myopathy (probable carnitine deficiency
时间:2018-11-08 22:06:19
作者:Almog C;Fried K;Reif R;Zieghelboim J;Lewinsohn G
出版源: 《Journal of Medical Genetics》 ,1979 ,16 (6) :435-438
摘要:Autosomal recessive lipid storage myopathy (probable carnitine deficiency).Abstract 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 ...
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