Literature DB >> 4095040

Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy.

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.

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Year:  1985        PMID: 4095040     DOI: 10.3109/15513818509025900

Source DB:  PubMed          Journal:  Pediatr Pathol        ISSN: 0277-0938


  2 in total

Review 1.  Renal involvement in mitochondrial cytopathies.

Authors:  P Niaudet; A Rötig
Journal:  Pediatr Nephrol       Date:  1996-06       Impact factor: 3.714

Review 2.  Mitochondrial DNA mutations in renal disease: an overview.

Authors:  Larissa P Govers; Hakan R Toka; Ali Hariri; Stephen B Walsh; Detlef Bockenhauer
Journal:  Pediatr Nephrol       Date:  2020-01-10       Impact factor: 3.714

  2 in total

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