Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

  title={Tonische Kr{\"a}mpfe in willk{\"u}rlich beweglichen Muskeln in Folge von ererbter psychischer Disposition},
  author={J. Thomsen},
  journal={Archiv f{\"u}r Psychiatrie und Nervenkrankheiten},
  • J. Thomsen
  • Published 1 October 1876
  • Psychology
  • Archiv für Psychiatrie und Nervenkrankheiten
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
This study confirms p.F167L and p.R105C as myotonia mutations in the Costa Rican population, whereas p.Q412P most likely induces a severe folding defect, explaining the lack of dominance in patients and expression systems, but has WT properties once expressed in the plasma membrane.
Adolph Seeligmüller (1837–1912)
Adolph Seeligmüller was a neurologist in Halle who was the first to describe hereditary spastic paraplegia in 1874 and tried to link anatomy and physiology to the pathologies and diseases.
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
A patient with myotonia and periodic paralysis in a consanguineous marriage pedigree is described by using whole-exome sequencing and a novel F306S variant in the CLCN1 gene and a known R222W mutation in the SCN4A gene were identified in the pedigree.
Guidelines on clinical presentation and management of nondystrophic myotonias
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene. Clinically, they are
Myotonia congenita Thomsen, 1875/1876
Ich erinnere mich an unseren Professor fur Neurologie, der uns lehrte: „Wenn Sie im Winter an einer Haltestelle stehen und Sie sehen in der Entfernung die Strasenbahn kommen und neben Ihnen beginnt
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
Improvements in clinical tests, the recognition of the different phenotypes that result from particular mutations and the understanding of how a mutation affects the structure and function of the ion channel, together with genetic screening, is expected to improve clinical correlation in NDMs.
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and molecular findings, which revealed the absence of the exons 15 and 16 in myotonic animals.
Canalopatías del músculo esquelético de base genética: parálisis periódicas y miotonías no distróficas
  • C. Ramón
  • Medicine
    Medicine - Programa de Formación Médica Continuada Acreditado
  • 2019