Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head

Autor:	N, Kashio, F, Usuki, T, Akamine, S, Nakagawa, I, Higuchi, K, Nakahara, A, Okada, M, Osame, F, Murata
Rok vydání:	1991
Předmět:	Adult Male Muscles Brain Glycogen Debranching Enzyme System alpha-Glucosidases Syndrome Magnetic Resonance Imaging Muscular Diseases Intellectual Disability Vacuoles Autophagy Humans Cardiomyopathies Glycogen
Zdroj:	Journal of the neurological sciences. 105(1)
ISSN:	0022-510X
Popis:	A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented. A histopathological study of biopsied skeletal muscle showed lysosomal glycogen storage mimicking acid maltase deficiency, but biochemical analysis showed normal acid alpha-glucosidase activity. Glycogenosomes were also recognized in endothelial cells on electronmicroscopic examination of biopsied skeletal muscle. Magnetic resonance imaging (MRI) findings in the head revealed the involvement of the central nervous system. This is a new type of lysosomal glycogen storage disease with multisystemic involvement. The specific biochemical defect in this disorder remains to be elucidated.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::465bd8ceefc8883726d380dff1ef8661 https://pubmed.ncbi.nlm.nih.gov/1795162 Zobrazit plný text záznamu