Fatal lipid storage myopathy in an infant: case report and autopsy findings
- PMID: 438846
- DOI: 10.1016/0022-510x(79)90143-6
Fatal lipid storage myopathy in an infant: case report and autopsy findings
Abstract
The clinical presentation, muscle biopsy appearances and autopsy findings in a male infant dying at the age of 13 weeks with a lipid storage myopathy are described. The primary metabolic abnormality was not elucidated but was thought not to be carnitine deficiency.
Similar articles
-
[Myopathy with carnitine deficiency and lactic acidosis. A contribution to differential diagnosis of carnitine deficiency myopathies and mitochondrial myopathies].Z Arztl Fortbild (Jena). 1992 Jul 10;86(13):667-71. Z Arztl Fortbild (Jena). 1992. PMID: 1642019 German. No abstract available.
-
Fatal lipid storage with abnormal mitochondria in an infant.Acta Neuropathol Suppl. 1981;7:221-5. doi: 10.1007/978-3-642-81553-9_66. Acta Neuropathol Suppl. 1981. PMID: 6939240
-
Lipid storage myopathy in infantile Pompe's disease.Arch Neurol. 1982 Mar;39(3):180-3. doi: 10.1001/archneur.1982.00510150050012. Arch Neurol. 1982. PMID: 6461316
-
Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.J Neurol Sci. 1992 Mar;108(1):105-13. doi: 10.1016/0022-510x(92)90195-q. J Neurol Sci. 1992. PMID: 1320661 Review.
-
Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis.Dev Med Child Neurol. 1987 Dec;29(6):815-20. doi: 10.1111/j.1469-8749.1987.tb08832.x. Dev Med Child Neurol. 1987. PMID: 2826280 Review. No abstract available.
Cited by
-
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.Virchows Arch A Pathol Anat Histopathol. 1983;399(1):11-23. doi: 10.1007/BF00666215. Virchows Arch A Pathol Anat Histopathol. 1983. PMID: 6298999
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources