A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. [electronic resource]
Producer: 20091113Description: 993-5 p. digitalISSN:- 1526-632X
- Action Potentials -- genetics
- Adult
- Ataxia -- genetics
- DNA Mutational Analysis
- Electromyography
- Female
- Genetic Predisposition to Disease -- genetics
- Genotype
- Humans
- Kv1.1 Potassium Channel -- genetics
- Muscle Contraction -- genetics
- Muscle Cramp -- genetics
- Muscle Weakness -- genetics
- Muscle, Skeletal -- metabolism
- Mutation -- genetics
- Myokymia -- genetics
- Myotonic Disorders -- genetics
- NAV1.4 Voltage-Gated Sodium Channel
- Sodium Channels -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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