Journal ArticleDOI
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency
Salvatore DiMauro,Jerry R. Mendell,Zarife Sahenk,David Bachman,Antonio Scarpa,Richard M. Scofield,Charles Reiner +6 more
TLDR
The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.Abstract:
A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1 / 2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undectectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.read more
Citations
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Journal ArticleDOI
Muscle satellite cells are multipotential stem cells that exhibit myogenic, osteogenic, and adipogenic differentiation
TL;DR: Results strongly suggest that muscle satellite cells possess multipotential mesenchymal stem cell activity and are capable of forming osteocytes and adipocytes as well as myocytes.
Journal ArticleDOI
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Lefkothea C. Papadopoulou,Carolyn M. Sue,Mercy M. Davidson,Kurenai Tanji,Ichizo Nishino,James E. Sadlock,Sindu Krishna,Winsome F. Walker,J Selby,D M Glerum,Rudy Van Coster,Gholson J. Lyon,E Scalais,R Lebel,Paige Kaplan,S. Shanske,Darryl C. De Vivo,Eduardo Bonilla,Michio Hirano,Salvatore DiMauro,Eric A. Schon +20 more
TL;DR: Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cy tochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane and mutations in the human homologue, SCO2, in three unrelated infants with a newly recognized fatal cardioencephalomyopathy and COX deficiency are identified.
Journal ArticleDOI
Cytochrome C oxidase deficiency in Leigh syndrome
Salvatore DiMauro,Serenella Servidei,Massimo Zeviani,Maja DiRocco,Darryl C. DeVivo,Stefano DiDonato,Graziella Uziel,Kenneth Berry,George E. Hoganson,Stanley D. Johnsen,Peter C. Johnson +10 more
TL;DR: The theory that COX deficiency is an important cause of Leigh syndrome is confirmed, with essentially normal amounts of cross‐reacting enzyme protein in various tissues from different patients.
Book ChapterDOI
Oxidative phosphorylation diseases. Disorders of two genomes.
TL;DR: The mitochondrial cytopathies are a heterogeneous group of diseases associated with defects in mitochondrial ATP production that affect the brain, skeletal muscle, heart, kidney, and liver.
Journal ArticleDOI
Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport*
TL;DR: There is a distinct form of carnitine deficiency which presents as cardiomyopathy and may be successfully treated with L-carnitine, which is a likely cause of this patient's disorder.
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Journal ArticleDOI
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