Severe recurrent renal salt wasting in a boy with a mitochondrial oxidative phosphorylation defect

Annals of Clinical Biochemistry

Volumn 37, Issue 6, 2000, Pages 805-808

  Southgate, H J ^a   Penney, M D ^b  

^a WORTHING HOSPITAL   (United Kingdom)

^b ROYAL GWENT HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; DISEASE SEVERITY; ELECTRON TRANSPORT; ENCEPHALOMYOPATHY; GENE MUTATION; HUMAN; HYPERALDOSTERONISM; HYPONATREMIA; MALE; MITOCHONDRIAL RESPIRATION; OXIDATION; OXIDATIVE PHOSPHORYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LIPID INTERACTION; SALT LOSING NEPHRITIS;

EID: 0033758290     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1258/0004563001900002     Document Type: Article

References (10)

1. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
2. A case of severe hypermetabolism of non thyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
3. Mitochondrial DNA and disease
4. Maternal inheritance and the evaluation of oxidative phosphorylation diseases
5. Mitochondrial diseases
6. Genetic disorders of renal electrolyte transport
7. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome
8. A new mitochondrial myopathy in a patient with salt craving
9. A case of MELAS with progressive cytochrome oxidase deficiency
10. Hereditary mitochondrial myopathy with lactic acidaemia, a de Tom-Fanconi-Debre syndrome and a defective respiratory chain in voluntary striated muscles