January 1, 2002Journal of Korean Medical ScienceOpen Access

A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies

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Population

A Korean family with paramyotonia congenita

Design

Case_series

Authors

DKDae Seong KimAjou University EKEun Joo KimJeonju National University of Education DJDae Soo Jung

Discussion

Member takes

Implication

May aid diagnosis via SCN4A testing in similar cases; extends mutation spectrum to Korean families and leaves open prevalence studies.

Structured PICO

Population

A Korean family with paramyotonia congenita (at least 10 affected members in an autosomal dominant inheritance pattern)

Outcome

Identification of genetic mutation and electrophysiologic/histopathologic characteristicssurrogate

This is the first report of a paramyotonia congenita family confirmed by molecular biological technique in Korea, identifying the Arg1448Cys mutation in the SCN4A gene.

Limitations

Observation of repetitive CMAP discharges needs to be confirmed among PC patients with different mutations

Cite This Study

Kim et al. (2002) studied this question.

synapsesocial.com/papers/6a74ca1e0b1b00a0ee091b64 https://doi.org/10.3346/jkms.2002.17.6.856

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A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider