Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

Miyabayashi, Shigeaki; Narisawa, Kuniaki; Iinuma, Kazuie; Tada, Keiya; Sakai, Koichiro; Kobayashi, Kazuo; Kobayashi, Yasuko; Morinaga, Shojiro

doi:10.1016/s0387-7604(84)80112-6

Cited by 58 publications

(21 citation statements)

References 29 publications

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“…As can be seen in table II, which lists all major mitochondrial myopathies, most of these conditions manifest with neurologic symptoms. These manifestations have not developed in our patient so far; however, gastrointestinal symptoms occasionally precede in months or years the remaining manifestations of mitochondrial disease (19)(20)(21)(22)(23)(24)(25). Moreover, the striated muscle study proved it to be normal both from the histological and ultrastructural standpoint, and in relation to mitochondrial DNA or mitochondrial respiratory chain activity.…”

Section: Inmunohistoquímica Con Actina 1a4 En Intestino Delgado Simimentioning

confidence: 47%

Chronic primary intestinal pseudo-obstruction from visceral myopathy

Muñoz-Yagüe

Marín

Colina

et al. 2006

Rev. esp. enferm. dig.

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Chronic intestinal pseudo-obstruction is an uncommon syndrome characterized by relapsing episodes suggesting intestinal obstruction during which no mechanical causes are identified to account for symptoms. Etiologic factors may be manifold. Among them a number of neurologic conditions, gastrointestinal smooth muscle myopathies, endocrino-metabolic and autoimmune diseases, and the use of selected drugs stand out. We report a case of chronic intestinal pseudo-obstruction originating in a sporadic, primary intestinal myopathy that corresponds to no type thus far described. A histological study of the intestinal wall showed disrupted muscle bundles and the presence of interstitial edema. Myocytes had severe degenerative changes, and no alterations were seen in submucosal and myenteric plexus neurons. The activity of enzyme complexes in the mitochondrial respiratory chain, and of thymidine phosphorylase was normal. No mitochondrial DNA changes were seen.

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