J W Day
Affiliation: University of Minnesota
- Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)J W Day
Department of Neurology, University of Minnesota, Minneapolis 55455 0323, USA
Neuromuscul Disord 9:19-27. 1999..This second form of myotonic dystrophy may help resolve the confusion that remains about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM...
- Rapid cloning of expanded trinucleotide repeat sequences from genomic DNAM D Koob
Department of Neurology, University of Minnesota, Minneapolis 55455, USA
Nat Genet 18:72-5. 1998..We have used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individual affected with ataxia and retinal degeneration...
- Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrumJ W Day
Institute of Human Genetics, Department of Neurology, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
Neurology 60:657-64. 2003..The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene...
- Genetic mapping of a second myotonic dystrophy locusL P Ranum
Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
Nat Genet 19:196-8. 1998..Understanding the common molecular features of two different forms of the disease should shed light on the mechanisms responsible for the broad constellation of seemingly unrelated clinical features present in both diseases...
- An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)M D Koob
Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
Nat Genet 21:379-84. 1999..SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract...
- Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9C L Liquori
Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
Science 293:864-7. 2001..Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2...
- Molecular genetics of spinocerebellar ataxia type 8 (SCA8)A K Mosemiller
Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
Cytogenet Genome Res 100:175-83. 2003..This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below...
- A transgenic mouse model of the slow-channel syndromeC M Gomez
Department of Neurology, University of Minnesota, Minneapolis, USA
Muscle Nerve 19:79-87. 1996..Furthermore these data support the hypothesis that the electrophysiological findings in the neuromuscular disorder, the slow-channel syndrome, are due to mutant AChRs...
- Insulin receptor splicing alteration in myotonic dystrophy type 2R S Savkur
Department of Pathology, Baylor University, Houston, TX, USA
Am J Hum Genet 74:1309-13. 2004..We now demonstrate that comparable splicing abnormalities occur in DM2 muscle prior to the development of muscle histopathology, thus demonstrating an early pathogenic effect of RNA expansions...
- Sudden cardiac death in myotonic dystrophy type 2B G H Schoser
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstr 1a, 80336 Munich, Germany
Neurology 63:2402-4. 2004..Cardiac histopathology showed dilated cardiomyopathy in all, and conduction system fibrosis in two patients. Pathogenetic CCUG ribonuclear inclusions were demonstrable in cardiomyocytes...
- Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardationM M Trudeau
J Med Genet 43:527-30. 2006..The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders...