Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

doi:10.1212/wnl.52.2.366

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Article

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

Neurology - 15 Jan 1999

Tein I, Haslam R H, Rhead W J, Bennett M J, Becker L E, Vockley J

Abstract excerpt

OBJECTIVE: To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy. BACKGROUND: A 13.5-year-old girl presented with congenital-onset facial and neck weakness, slowly progressive severe limb girdle and axial myopathy, respiratory weakness, cardi...

Topics

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases
Adolescent
Carnitine
Cells, Cultured
Diagnosis, Differential
Female
Fibroblasts
Humans
Mitochondrial Myopathies
Ophthalmoplegia, Chronic Progressive External
Phenotype

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