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Literature DB >> 2540284

Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.

C Doriguzzi¹, L Palmucci, T Mongini, N Bresolin, L Bet, G Comi, R Lala.

Abstract

A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxidase deficiency, 58% decrease of cytochrome aa3 and 41% decrease of cytochrome b. Enzyme-linked immunosorbent assay showed decrease of the immunologically active enzyme protein.

Entities: Disease Gene Species

Mesh：

Year: 1989 PMID： 2540284 PMCID： PMC1032671 DOI： 10.1136/jnnp.52.1.122

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

26 in total

1. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

Authors: T P KEARNS; G P SAYRE
Journal: AMA Arch Ophthalmol Date: 1958-08

2. Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies.

Authors: E Byrne; X Dennett; I Trounce; R Henderson
Journal: J Neurol Sci Date: 1985-12 Impact factor: 3.181

3. Kearns-Sayre syndrome: the importance of early recognition.

Authors: A M Seigel; B A Shaywitz; T Ciesielski
Journal: Am J Dis Child Date: 1977-06

4. Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia.

Authors: D M Turnbull; M A Johnson; D J Dick; N E Cartlidge; H S Sherratt
Journal: J Neurol Sci Date: 1985-08 Impact factor: 3.181

Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.

1. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

2. Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies.

3. Kearns-Sayre syndrome: the importance of early recognition.

4. Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia.

Review 5. Mitochondrial myopathies. Clinical, morphological and biochemical aspects.

6. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.

7. [Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].

8. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

9. Oculocraniosomatic neuromuscular disease with hypoparathyroidism.

10. Basal ganglia calcification in Kearns-Sayre syndrome.

1. Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

2. Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study.

3. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia.