@article{16f402c21eb34360869a75d5247734df,
title = "Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion",
author = "Bartley, \{James A.\} and Shivanand Patil and Sandra Davenport and David Goldstein and James Pickens",
note = "Funding Information: The locus for the Duchenne muscular dystrophy gene is on the short arm of the X-chromosome within band Xp21.1 Glycerol kinase deficiency is also an X-linked disorder, 2,3 associated in all patients with hyperglycerolemia and glyceroluria. 4 Ginns et al? recently suggested three forms of GKD: infantile, juvenile, and adult. Infantile GKD is characterized by adrenal hypoplasia, psychomotor retardation, growth delay, osteoporosis, and myopathy in some patients? .4,6,7 In three boys with infantile GKD and myopathy, muscle histology showed findings similar to those found in Duchenne muscular dystrophy. 6, 7 Two boys with juvenile GKD initially, at 4 years of age, had episodic vomiting, metabolic acidosis, stupor, and coma? ,8 No further episodes of coma occurred in one of these boys after he began a low-fat diet? Adults with GKD have been Supported by a grant from the Muscular Dystrophy Association and by Grants HD-3-2822 and CA28848 from the National Institutes of Health. Submitted for publication June 25, 1985; accepted Aug. 8, 1985. Reprint requests: James A. Bartley, M.D., Ph.D., Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242.",
year = "1986",
month = feb,
doi = "10.1016/S0022-3476(86)80980-5",
language = "English",
volume = "108",
pages = "189--192",
journal = "Journal of Pediatrics",
issn = "0022-3476",
number = "2",
}