نتایج جستجو برای: myotonia congenita
تعداد نتایج: 4830 فیلتر نتایج به سال:
Myotonia congenita and periodic paralyses are hereditary skeletal muscle channelopathies. In these disorders, various channel defects in the sarcolemma lead to a severely disturbed membrane excitability of the affected skeletal muscles. The clinical picture can range from severe myotonic reactions (e.g., masseter spasm, opisthotonus) to attacks of weakness and paralysis. Provided here is a shor...
BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS Th...
OBJECTIVES To define a new type of dominant myotonic muscle disorder and to identify the gene lesion. DESIGN Case series, clinical examination and electromyography, measurements of grip force and relaxation time, and DNA analysis to probe for mutation in the gene for the skeletal muscle sodium channel. SETTING Outpatient clinic and home. PATIENTS Three families studied; all together, 17 a...
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...
The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q35. In contrast, dominant myotonias sensitive to potassium are caused by point ...
THOMSEN'S disease (myotonia congenita), dystrophia myotonica (myotonia atrophica), and paramyotonia are characterized by the presence of myotonia. As an isolated symptom, myotonia had already been described by Benedikt (1874) and Leyden (1874) when Thomsen (1876) published his paper (following the refusal by the Prussian army medical officers of a certificate of the disease in one of his sons),...
Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N...
Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense...
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