Muscle Hypotonia in Lowe’s Syndrome

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-5-6-4

Keywords:

Oculocerebrorenal Syndrome, Muscle Enzymes, Carnitine Metabolism

Abstract

As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growth and renal function.

Published

1991-06-01

Issue

Section

Neuromuscular Disorders