✦ LIBER ✦

Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency

✍ Scribed by Hidefumi Tonoki; Kenji Fujieda; Naofumi Kjii; Kunio Ozutsumi; Shogo Nagano; Norio Niikawa

Book ID: 117162317
Publisher: Elsevier Science
Year: 1990
Tongue: English
Weight: 936 KB
Volume: 117
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(05)80545-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion mapping in Xp21 for patients wi

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

✍ Christopher M. Stanczak; Zugen Chen; Yao-Hua Zhang; Stanley F. Nelson; Edward R. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 312 KB

## Communicated by Nancy Spinner Infantile or complex glycerol kinase deficiency (cGKD) is a contiguous gene deletion syndrome caused by a loss of GK (MIM] 300474), along with its neighboring genes, Duchenne muscular dystrophy (DMD; MIM] 300377) and/or Nuclear Receptor Subfamily 0, Group B, Member

IL1RAPL1 is associated with mental retar

IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1

✍ Yao-Hua Zhang; Bing-Ling Huang; Kathy K. Niakan; Linda L. McCabe; Edward R.B. Mc 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB

IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1) has recently been shown to be mutated in patients with X-linked mental retardation. Clinical experience has suggested that patients with the contiguous gene syndrome, complex glycerol kinase deficiency (cGKD), will have mental retardat

Deficiency of laminin α2-Chain mRNA in m

Deficiency of laminin α2-Chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy

✍ Dr. Yukiko K. Hayashi; Dr. Ritsuko Koga; Dr. Toshifumi Tsukahara; Dr. Hiroko Ish 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB

Partial deficiency of complexes I and IV

Partial deficiency of complexes I and IV of the mitochondrial respiratory chain in skeletal muscle of two patients with mitochondrial myopathy

✍ J. Bleistein; S. Zierz 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 896 KB

Respiratory chain enzymes were studied in isolated mitochondria of two patients with mitochondrial myopathy. Both patients had been suffering from chronic progressive external ophthalmoplegia and abnormal muscular fatigability since late childhood. One of the patients exhibited the complete triad of

Clinical heterogeneity and molecular fin

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

✍ Christina Hellerud; Maciej Adamowicz; Dorota Jurkiewicz; Joanna Taybert; Jolanta 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 355 KB

Combined deficiencies of complexes III a

Combined deficiencies of complexes III and IV of the respiratory chain, involving both nuclear and mitochondrial gene products, in skeletal muscle of a patient with lactic acidosis

✍ N. G. Kennaway; M. L. Wagner; R. A. Capaldi; S. Takamiya; W. Yanamura; W. Ruiten 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 844 KB