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

The Journal of Pediatrics

Volumn 108, Issue 2, 1986, Pages 189-192

  Bartley, James A ^a,b   Patil, Shivanand ^a,b   Davenport, Sandra ^a,b   Goldstein, David ^a,b   Pickens, James ^a,b  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL CORTEX INSUFFICIENCY; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHROMOSOME DELETION; CHROMOSOME DELETION X; CHROMOSOME XP; CONGENITAL DISORDER; DIAGNOSIS; DUCHENNE MUSCULAR DYSTROPHY; ENDOCRINE SYSTEM; GENETIC ENGINEERING; GLYCEROL KINASE DEFICIENCY; HEREDITY; HUMAN; HYPOGLYCEMIA; MUSCLE; NERVOUS SYSTEM; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SPASTICITY;

ADRENAL INSUFFICIENCY; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; FEMALE; GLYCEROL; GLYCEROL KINASE; HUMANS; LYMPHOCYTES; MALE; MUSCULAR DYSTROPHIES; PEDIGREE; PHOSPHOTRANSFERASES; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0022622372     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(86)80980-5     Document Type: Article

References (14)

1. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus
2. Familial hyperglycerolemia
3. Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia
4. Human glycerol kinase deficiency: an inborn error of compartmental metabolism
5. A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor
6. Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities
7. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency in male sibs
8. Deficiency of glycerol kinase (EC 2.7.1.30)
9. Glycerokinase deficiency
10. Pseudohypertriglyceridemia caused by hyperglycerolemia due to congenital enzyme deficiency
11. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome
12. High resolution of the human chromosomes
13. Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis
14. Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes