Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Corrado Angelini; Nereo Bresolin; Giovanna Pegolo; Luciano Bet; Piero Rinaldo; Carlo Trevisan; Ludovica Vergani

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Corrado Angelini, Nereo Bresolin, Giovanna Pegolo, Luciano Bet, Piero Rinaldo, Carlo Trevisan, Ludovica Vergani

Research output: Contribution to journal › Article › peer-review

Abstract

The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

Original language	English
Pages (from-to)	1048-1052
Number of pages	5
Journal	Neurology
Volume	36
Issue number	8
Publication status	Published - 1986

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology
Neuroscience(all)

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title = "Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment",

abstract = "The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.",

author = "Corrado Angelini and Nereo Bresolin and Giovanna Pegolo and Luciano Bet and Piero Rinaldo and Carlo Trevisan and Ludovica Vergani",

year = "1986",

language = "English",

volume = "36",

pages = "1048--1052",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "8",

}

TY - JOUR

T1 - Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

AU - Angelini, Corrado

AU - Bresolin, Nereo

AU - Pegolo, Giovanna

AU - Bet, Luciano

AU - Rinaldo, Piero

AU - Trevisan, Carlo

AU - Vergani, Ludovica

PY - 1986

Y1 - 1986

N2 - The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

AB - The son of third cousins was normal until age 2 when he had difficulty walking. At age 8 there was limb weakness, ataxia, loss of tendon reflexes, dislalia, and he was mildly retarded. During fasting, urinary organic acid excretion was abnormally high. Cytochrome c oxidase activity in muscle was 7% of the normal mean. The enzyme in platelets was 16% of controls with a decreased cytochrome aa3 peak. These data suggest an autosomal recessive transmission of this variant of cytochrome c oxidase deficiency.

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M3 - Article

C2 - 3016603

AN - SCOPUS:0022507036

VL - 36

SP - 1048

EP - 1052

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -