Home LiteratureArticle Details

PMID: 3003318 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

The Journal of pediatrics ·Vol. 108 ·No. 2 ·1986-02-00 ·Pages 189-92

Bartley JA, Patil S, Davenport S, Goldstein D, Pickens J

Abstract

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.

MeSH Terms

Adrenal Insufficiency/genetics Child Chromosome Banding Chromosome Deletion Chromosome Mapping Female Glycerol/urine Glycerol Kinase/deficiency,genetics Humans Lymphocytes/ultrastructure Male Muscular Dystrophies/genetics Pedigree Phosphotransferases/deficiency Sex Chromosome Aberrations/genetics X Chromosome

Chemicals

Phosphotransferases Glycerol Kinase Glycerol

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Bartley J A

Patil S

Davenport S

Goldstein D

Pickens J

Article Info

Journal

The Journal of pediatrics

Abbr.

J Pediatr

ISSN

0022-3476

DOI

10.1016/s0022-3476(86)80980-5

Published

1986-02-00

Pages

189-92

Language

English

Region

United States

NLM ID

0375410

Subset

Grants

NCI NIH HHS · CA28848 · United States

NICHD NIH HHS · HD-3-2822 · United States

External Links

PubMed source DOI: 10.1016/s0022-3476(86)80980-5 View journal details

Analysis Services

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

Contact

WeChat Official Account