| Literature DB >> 4095040 |
P S Thorner, J W Balfe, L E Becker, R Baumal.
Abstract
Mitochondrial myopathy (MM) is reported in a 5-year-old girl with short stature, hypotonia, ptosis, retinal pigmentation, and Fanconi's syndrome. A muscle biopsy showed the characteristic features of MM, and a renal biopsy revealed abnormal mitochondria in tubular cells that were similar to those seen in the muscle. This is the first report of such findings in association with MM.Entities:
Mesh:
Year: 1985 PMID: 4095040 DOI: 10.3109/15513818509025900
Source DB: PubMed Journal: Pediatr Pathol ISSN: 0277-0938