Thomsen and myotonia congenita.
نویسنده
چکیده
Virgin's role in the story is that of a mother who uses medicine to treat her child,28 her selection of a remedy recommended by the most prominent medical authorities could scarcely have been more appropriate. The cure would still have been considered a miracle, although based on medical principles. Moreover, by using this device, Chaucer would have appealed to the intellectual capacities of his audience, and thus would have attracted new interest into his retelling of a familiar legend. In any event, an alternative answer to the problem posed by Chaucer's use of the word grain may be found in medieval medical writings. A scholarly consensus reregarding the meaning of this object may never be achieved, and it has even been proposed that Chaucer made his references to the grain intentionally vague in order to accomplish diverse literary and aesthetic goals.29 Whatever his purpose, the ambiguity of this term has resulted in the study of materials hitherto ignored. Therefore, it may be hoped that the grain and other puzzling elements in Chaucer's works, like the perturbations of a known planet, will continue luring scholars to explore the unknown.
منابع مشابه
Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
The chromosomal localization of the gene for Thomsen disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linka...
متن کاملAutosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia conge...
متن کاملNovel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
INTRODUCTION Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS Patient ...
متن کاملClinical study of paramyotonia congenita with and without myotonia in a warm environment.
Fourteen patients with paramyotonia congenita were examined clinically. Patients of 3 families had no myotonia in a warm environment while in a cold environment they developed paradoxical myotonia (myotonia aggravated by repeated muscle contraction). Patients of a 4th family had myotonia associated with after-activity in a warm environment which was not paradoxical. This myotonia was aggravated...
متن کاملMyotonic Diseases since
Julius thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By november 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the second international congress on Muscle Diseases, in Perth. there, he presented an extensive study of myotonia, recognising a recessively inherited diseas...
متن کاملElectrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features
Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in ske...
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ورودعنوان ژورنال:
- Medical History
دوره 12 شماره
صفحات -
تاریخ انتشار 1968