Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.
Neurology
; 52(2): 383-6, 1999 Jan 15.
Article
in En
| MEDLINE
| ID: mdl-9932961
ABSTRACT
The authors report a child with a spinal muscular atrophy (SMA)-like picture, cardiomyopathy, and cytochrome c oxidase (COX) deficiency. Electromyography and muscle biopsy showed findings typical of SMA. However, COX staining of the muscle was negative. DNA analysis did not detect deletions in the survival motor neuron (SMN) gene. The lactate and lactate-to-pyruvate ratios were increased in blood and CSF. COX activity was decreased in muscle and fibroblasts. Western blot analysis showed reduced contents for all COX subunits. Patients with clinical features resembling SMA but with an intact SMN gene should be screened for a mitochondrial disorder.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinal Muscular Atrophies of Childhood
/
Cardiomegaly
/
Cytochrome-c Oxidase Deficiency
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Neurology
Year:
1999
Document type:
Article
Affiliation country:
Netherlands