✦ LIBER ✦

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

✍ Scribed by James A. Bartley; Shivanand Patil; Sandra Davenport; David Goldstein; James Pickens

Book ID: 119462262
Publisher: Elsevier Science
Year: 1986
Tongue: English
Weight: 732 KB
Volume: 108
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(86)80980-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Åland Island eye disease (Forsius-Erikss

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

✍ Pillers, De-Ann M. ;Weleber, Richard G. ;Powell, Berkley R. ;Hanna, Cheryl E. ;M 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 582 KB

Familial deletion of Xp21.2 with glycero

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

✍ F. Marlhens; J. Chelly; J. C. Kaplan; D. Lefrancois; J. P. Harpey; B. Dutrillaux 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 819 KB

405 Duchenne muscular dystrophy with men

405 Duchenne muscular dystrophy with mental retardation and a peculiar phenotype associated with glycerol kinase deficiency

✍ R. Schmid; A. Bottani; F. Picard; C.A. Haenggeli 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 131 KB

Deletion proximal to DXS68 locus (L1 pro

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

✍ J. Chelly; F. Marlhens; B. Dutrillaux; G. J. Ommen; M. Lambert; B. Haioun; G. Bo 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 962 KB

Complex glycerol kinase deficiency: A co

Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita loci

✍ McCabe, Edward R. B. ;Guo, Weiwen ;Burris, Thomas P. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 795 KB

Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the criti

Characterisation of a Xp21 microdeletion

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita

✍ M. Stuhrmann; H. Heilbronner; A. Reis; R. -D. Wegner; P. Fischer; J. Schmidtke 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 249 KB

We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular