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myotonia congenita/ethet

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Malignant hyperthermia in myotonia congenita.

Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation after each developed muscle rigidity with anesthesia. Halothane contracture testing of skeletal muscle in both was consistent with MH susceptibility. A third sister without

In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.

Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
BACKGROUND A common form of congenital myotonia, myotonia congenita (MC), is caused by mutations in the skeletal muscle Cl(-) channel gene type 1 (CLCN1). Due to the reduced Cl(-) conductance of the mutated channels, the patients may develop generalized muscle rigidity and hypermetabolism during

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

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Identifikohuni Regjistrohu
Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility

[Malignant hyperthermia or myotonia congenita].

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Identifikohuni Regjistrohu

Malignant hyperthermia and myotonia congenita (Thomsen's disease)

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Failure to induce malignant hyperthermia in myotonic goats.

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Identifikohuni Regjistrohu
Six goats with myotonia congenita were exposed for 1 h to 1% halothane and a single injection of suxamethonium i.v. in an attempt to induce malignant hyperthermia. No evidence of malignant hyperthermia occurred. Suxamethonium did produce a myotonic response in each goat, lasting 10-20s, which was

Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).

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Identifikohuni Regjistrohu
BACKGROUND Ryanodine receptor 1 (RyR1) is a Ca(2+) release channel located in the sarcoplasmic reticulum membrane of skeletal muscle. More than 200 variants in RyR1 have been identified in DNA from patients with malignant hyperthermia (MH) and congenital myopathies; only 30 have been sufficiently

Malignant hyperthermia and neuromuscular disease.

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Identifikohuni Regjistrohu
Malignant hyperthermia (MH) is a rare clinical syndrome characterized by hypermetabolism and triggered by specific anesthetic agents. The mechanism of this abnormal reaction is due to uncontrolled calcium flux in the skeletal muscles resulting in a variable clinical syndrome of muscle rigidity,

[Anesthetic managements of a patient with congenital myotonia (Becker type)].

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Identifikohuni Regjistrohu
A 55-year-old woman with congenital myotonia (Becker type), diagnosed by muscle biopsy and gene examination, underwent a right lower lobectomy assisted with thoracoscopy for lung cancer. After epidural tube replacement at T 9-10, general anesthesia was introduced with propofol 2.5 mg x kg(-1) and

Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders.

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Identifikohuni Regjistrohu
Myotonia congenita (MC) is caused by a defect in the skeletal muscle chloride channel function, which may cause sustained membrane depolarisation. We describe a previously healthy 32-year-old woman who developed a life-threatening muscle spasm and secondary ventilation difficulties following a

[Anesthesia in myotonia].

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Identifikohuni Regjistrohu
Myotonia is defined as a persistent contraction of skeletal muscles after their stimulation. This contracture is not prevented or relieved by regional anaesthesia or muscle relaxants. The sensitivity to non-depolarizing muscle relaxants is usually normal. Suxamethonium, neostigmine, hypothermia, a

Molecular genetics of ion channel diseases.

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Identifikohuni Regjistrohu
Many physiological processes depend upon the proper functioning of plasma membrane ion channels. This is most apparent in absorptive and secretory epithelia, and in electrically excitable tissues such as nerve and muscle. Disturbances in the operation of ion channels in these settings can alter

Ion channel genes and human neurological disease: recent progress, prospects, and challenges.

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Identifikohuni Regjistrohu
What do epilepsy, migraine headache, deafness, episodic ataxia, periodic paralysis, malignant hyperthermia, and generalized myotonia have in common? These human neurological disorders can be caused by mutations in genes for ion channels. Many of the channel diseases are "paroxysmal disorders" whose

Neurological channelopathies: diagnosis and therapy in the new millennium.

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Identifikohuni Regjistrohu
Rapid progress in the complementary fields of molecular genetics and cellular electrophysiology has led to a better understanding of many disorders which are caused by ion channel dysfunction. These channelopathies may manifest in a multitude of ways depending on the tissue specificity of the

[Channelopathy].

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Identifikohuni Regjistrohu
Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies, paroxysmal movement disorders, myopathies and some degenerative disorders of central nervous system. Ion channel defects were mainly caused by genetic and autoimmune mechanisms.
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