Manuela C Koch
Zentrum fuer Humangenetik, Philipps-Universitaet Marburg, 35033 Marburg, Germany | Center of Human Genetics, University of Marburg, 35037 Marburg, Germany | Zentrum für ...
KOL Resume for Manuela C Koch (neuromuscular, myotonic disorders, disorders, myotonic, disease)
Zentrum fuer Humangenetik, Philipps-Universitaet Marburg, 35033 Marburg, Germany
Center of Human Genetics, University of Marburg, 35037 Marburg, Germany
Zentrum für Humangenetik, Philipps-Universität Marburg, Bahnhofstr. 7, 35037 Marburg, Germany
Zentrum für Humangenetik, Philipps‐Universität Marburg, Germany
Zentrum für Humangenetik, Philipps-Universität Marburg, Bahnhofstr. 7, 35037, Marburg, Germany
Zentrum für Humangenetik, Philipps‐Universität Marburg, Marburg, Germany
Institut fur Allgemeine Humangenetik, Philipps-Universitat Marburg, Bahnhofstr. 7a, 35037, Marburg, Germany
Zentrum für Humangenetik, Philipps-Universität Marburg, 35037, Marburg, Germany
Medizinisches Zentrum für Humangenetik, Bahnhofstrasse 7, D‐35037 Marburg, Germany
Medizinisches Zentrum für Humangenetik der Philipps-Universität Marburg, Bahnhofstrasse 7,D-35033 Marburg, Germany
From the Departments of Neurology (Drs. Ricker, Schneider, and Toyka) and Human Genetics (Drs. Grimm, Kress, and Mueller), University of Würzburg; Department of Human Genetics (Dr. Koch), University of Marburg; Department of Clinical Neurophysiology (Dr. Reimers), University of Göttingen; Department of Neurology (Dr. Schulte-Mattler), University of Halle; Bernhard Nocht Institute for Tropical Medicine (Dr. Mueller-Myhsok), Hamburg, Germany.
Medizinisches Zentrum für Humangenetik, Bahnhofstraße 7, D‐35037 Marburg, Germany
Medizinisches Zentrum für Humangenetik, Philipps-Universität, Bahnhofstrasse 7a, D-35037 Marburg, Germany, DE
From the Departments of Neurology (Drs. Hund, Fogel, Niedermaier, and Meinck), Neuroradiology (Dr. Jansen), and Internal Medicine (Dr. Kuhn), University of Heidelberg, Heidelberg; Department of Human Genetics (Drs. Koch and Otto), University of Marburg, Marburg; and Department of Neurology (Dr. Ricker), University of Wurzburg, Wurzburg, Germany. Molecular genetic studies were supported in part by the Deutsche Forschungsgemeinschaft (DFG), Bonn, Germany. Received April 4, 1996. Accepted in final form June 14, 1996. Address correspondence and reprint requests to Dr. Ernst F. Hund, Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, D-69120 Heidelberg, Germany.
Medizinisches Zentrum für Humangenetik der Philipps Universität Marburg, MarburgGermany
Medical Center for Human Genetics Marburg University Bahnhofstr. 7a D-3550 Marburg Germany
Centre for Molecular Neurobiology (ZMNH), Hamburg University, Germany
Institute of Child Health, Bristol.
Medizinisches Zentrum für Humangenetik, Philipps-Universität Marburg, Germany.
Medical Center for Human Genetics, Marburg University, D-3550 Marburg, Germany.
Institut für Humangenetik, Universität Marburg, Germany.
Zentrum für Humangenetik, Abteilung Allgemeine Humangenetik der Philipps Universität, Bahnhofstrasse 7, W-3550, Marburg, Germany
Institute of Medical Genetics, University of Wales College of Medicine, Health Park, CF4 4XN, Cardiff, UK
Institut für Hümangenetik und Genetische Poliklinik der Universitit Marburg, FRG
Molecular Genetics Laboratory, Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, United Kingdom
Institut für Humangenetik and Anthropologie der Universität Freiburg, FRG;, Institute of Pathology, University of Pretoria, South Africa;, Medizinische Klinik der Universität Freiburg, FRG;, University of Wales College of Medicine, Cardiff, UK
Prominent publications by Manuela C Koch
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dy
[ PUBLICATION ]
In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity observed both within and between families has obscured past attempts to identify any phenotypic differences between families from which phenotype-genotype correlation could proposed, although it is noted that age at onset is youngest and severity greatest in isolated cases. From 14/16 large 4q35-linked FSHD families, and 25/34 isolated cases exhibiting a de novo D4F104S1 DNA fragment, we find a ...
|Known for Fragment Size | Age Onset | Human Pair | Preschool Chromosomes | Fshd Families|
Myotonic dystrophy type 2
[ PUBLICATION ]
BACKGROUND: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. 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.
METHODS: Three-hundred and seventy-nine individuals from 133 DM2/PROMM families were evaluated genetically, and in 234 individuals clinical and ...
|Known for Myotonic Dystrophy | Dm2 Dm1 | Southern Analysis | Onset Aged Aged | Type 2|
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (CLC-1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor beta ...
|Known for Muscle Chloride | Dominant Genes | Human Myotonia | Sodium Currents | Complementary Dna|
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
[ PUBLICATION ]
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human chromosome 7q35. We have systematically screened the open reading frame of the CLCN1 gene for mutations by SSC analysis (SSCA) in a panel of ...
|Known for Muscle Chloride | Clcn1 Gene Mutations | Channel Gene | Mutation Myotonia | Direct Sequencing|
Multimeric structure of ClC‐1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
[ PUBLICATION ]
Voltage-gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably transepithelial transport. ClC channels can be functionally expressed without other subunits, but it is unknown whether they function as monomers. We now exploit the properties of human mutations in the muscle chloride channel, ClC-1, to explore its multimeric structure. This is based on analysis of the dominant negative effects of ClC-1 mutations causing ...
|Known for Myotonia Congenita | Clc‐1 Chloride Channel | Complementary Female Genes | Molecular Dna | Amino Acid|
Linkage disequilibrium of MTHFR genotypes 677C/T‐1298A/C in the German population and association studies in probands with neural tube defects(NTD)
[ PUBLICATION ]
A number of studies have demonstrated that the common polymorphism 677C-->T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent in NTD probands compared with controls in some studies. Recently, another polymorphism, 1298A-->C, in the MTHFR gene was described and combined heterozygosity 677CT/1298AC was suggested to ...
|Known for Linkage Disequilibrium | Mthfr Genotypes | Neural Tube | Haplotypes Humans | Thermolabile Variant|
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17
[ PUBLICATION ]
Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the α-subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was ...
|Known for Paramyotonia Congenita | Hyperkalemic Periodic Paralysis | Allelic Heterogeneity | Sodium Channel | Muscle Weakness|
Proximal Myotonic Myopathy: Clinical Features of a Multisystem Disorder Similar to Myotonic Dystrophy
[ PUBLICATION ]
BACKGROUND: Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders. It is important to extend our clinical knowledge of this interesting new disorder by studying other families.
PATIENTS: Thirty-five patients in 14 new families; 27 patients were examined.
METHODS: Clinical ...
|Known for Proximal Myotonic Myopathy | Myotonic Dystrophy | Promm Dm | Multisystem Disorder | Muscle Biopsy|
In the past the term Bartter’s syndrome has been used to describe a spectrum of inherited renal tubular disorders with hypokalemic metabolic alkalosis and overlapping and additional clinical and biochemical features. Pathogenesis remained uncertain until recently Gitelman’s syndrome, the hypokalemic-hypomagnesemic variant with hypocalciuria, was linked to the gene encoding the thiazide-sensitive Na-Cl-cotransporter (TSC) located on chromosome 16q. Various mutations in the TSC gene were ...
|Known for Gitelman Syndrome | Tsc Gene | Chromosome 16q | Hypokalemic Metabolic Alkalosis | Classic Bartter|
Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
[ PUBLICATION ]
Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait is genetically distinct from other syndactyly types, and through autozygosity mapping we had identified a locus on chromosome 17p13.3 for this unique limb malformation. Here, we extend the number of independent pedigrees from various geographic regions segregating MSSD ...
|Known for Phalangeal Reduction | Synostotic Syndactyly | Transcription Factors | Helix Loop | Mutations Bhlha9|
Facioscapulohumeral muscular dystrophy
[ PUBLICATION ]
muscular dystrophy (FSHD) is associated
with a decreased number
of D4Z4 repeats on chromosome
4q35. Diagnostic difficulties arise
from atypical clinical presentations
and from an overlap in D4Z4 numbers
between controls and FSHD
individuals. Thus, a molecular genetic
test result with a borderline
D4Z4 number has its limitations
for the clinician wanting to differentiate
between the diagnosis of
FSHD and a myopathy presenting
with FSHD-like symptoms.To ...
|Known for Muscular Dystrophy | Fshd D4z4 | Human Pair | Clinical Severity | Aged Molecular|
Manuela C Koch: Influence Statistics
|unidentified fshd1a gene||#1|
|scn4a locus α||#1|
|lod score 144||#1|
|mutations r1448h mutation||#1|
|4 dna deoxyribonuclease||#1|
|camptodactyly large german||#1|
|inherit 4q35 haplotype||#1|
|female humans fshd1||#1|
|short 10q26 fragment||#1|
|ravensberger land founder||#1|
|shortened 10q26 fragments||#1|
|german families mutation||#1|
|ssca mutation screen||#1|
|german paramyotonia congenita||#1|
|dobutamine stress rest||#1|
|eighteen families mutations||#1|
|heterozygous 455tc genotype||#1|
|stress dimensional echocardiography||#1|
|414 microsatellite markers||#1|
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Key People For Myotonic Dystrophy
Manuela C Koch:Expert Impact
Concepts for whichManuela C Kochhas direct influence:Myotonic dystrophy, Genetic counseling, Myotonia congenita, Genetic heterogeneity, Proximal myotonic myopathy, Paramyotonia congenita, Human pair, Costa rica.
Manuela C Koch:KOL impact
Concepts related to the work of other authors for whichfor which Manuela C Koch has influence:Myotonic dystrophy, Myotonia congenita, Skeletal muscle, Chloride channels, Facioscapulohumeral muscular, Neural tube defects, Dm1 dm2.
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