Autosomal recessive lipid storage myopathy (probable carnitine deficiency)
| Autor: | R Reif, G Lewinsohn, J Zieghelboim, C Almog, K Fried |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Adult
medicine.medical_specialty Weakness Muscle Hypotonia Adolescent Genes Recessive Biology Lipid Metabolism Inborn Errors Carnitine Internal medicine Genetics medicine Humans Myopathy Genetics (clinical) Muscles medicine.disease Pedigree Neutral lipid Microscopy Electron Endocrinology Respiratory failure Lactic acidosis Female medicine.symptom Research Article medicine.drug |
| Zdroj: | Journal of Medical Genetics. 16:435-438 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.16.6.435 |
| Popis: | 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 deficiency and the histochemical finding of many lipid-filled vacuoles in muscle fibres and the electron microscopical findings were identical to those reported in that disease. The finding of affected sisters supports autosomal recessive mode of inheritance. |
| Databáze: | OpenAIRE |
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