(Q28236833)

English

Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype

scientific article (publication date: March 1997)

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scholarly article

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Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype (English)

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periodic paralysis

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hyperkalemic periodic paralysis

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paramyotonia congenita

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object named as

O Hardiman

6

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author name string

P Kelly

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W S Yang

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D Costigan

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M A Farrell

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S Murphy

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language of work or name

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publication date

March 1997

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Neuromuscular Disorders

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7

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2

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105-11

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Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

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The skeletal muscle sodium and chloride channel diseases

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Adynamia episodica hereditaria: what causes the weakness?

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Molecular pathophysiology of voltage-gated ion channels

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Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

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Progressive myopathy in hyperkalemic periodic paralysis

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Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

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Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?

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A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

1 reference

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Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

1 reference

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Non-dystrophic myotonias and periodic paralyses

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Functional expression of sodium channel mutations identified in families with periodic paralysis

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Overexcited or inactive: ion channels in muscle disease

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Exercise-induced membrane failure in paramyotonia congenita

1 reference

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Electromyographic distinction between paramyotonia congenita and myotonia congenita: effect of cold

1 reference

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AAEE minimonograph #27: differential diagnosis of myotonic syndromes

1 reference

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Lack of cold sensitivity in hyperkalemic periodic paralysis

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Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

1 reference

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10.1016/S0960-8966(96)00429-4

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