Congenital muscle fiber-type disproportion in Krabbe's leukodystrophy.
Dehkharghani F, Sarnat HB, Brewster MA, Roth SI.
Archives of neurology.Arch Neurol.1981 Sep;38(9):585-7.
Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months, galactocerebrosidase and galactosylceramide-beta-galactosidase activities were deficient in leukocytes. Intramuscular nerves and a sural nerve biopsy specimen showed loss o