| Literature DB >> 3683878 |
T Ishitsu1, T Miike, A Kitano, Y Haraguchi, Y Ohtani, I Matsuda, A Shimoji, H Kimura.
Abstract
Five patients with mitochondrial disorders in a single family showed marked heterogeneity of clinical signs and symptoms. Two patients had the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; one had blepharoptosis, seizures, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder. This family supports the concept of a "mitochondrial cytopathy."Entities:
Mesh：
Year: 1987 PMID： 3683878 DOI： 10.1212/wnl.37.12.1867
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910