منابع مشابه
Menkes X linked disease: two clonal cell populations in heterozygotes.
The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. Th...
متن کاملMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resultin...
متن کاملMenkes' disease: case report.
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy ...
متن کاملMenkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
متن کاملExtremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes
PURPOSE To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phen...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1999
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199904020-00826