Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

doi:10.1016/0022-510x(96)00173-6

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Journal of the neurological sciences - 1 Oct 1996

Plassart E, Eymard B, Maurs L, Hauw J J, Lyon-Caen O, Fardeau M, Fontaine B

Abstract excerpt

Sodium channel disorders include hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and potassium-aggravated myotonia (PAM). PC is a myotonic syndrome characterized by cold-induced muscle stiffness and weakness. In this paper, we report two families. The first is affected by PC with cold-induced stiffness and no weakness, in addition to hyperPP. This family displays the Arg1448Cys mutation in...

Topics

Adult
Aged
Family Health
Female
Genotype
Humans
Male
Middle Aged
Molecular Sequence Data
Myotonia Congenita
Neuromuscular Junction
Pedigree
Phenotype
Point Mutation
Protein Structure, Tertiary

Source

Open in PubMed

Identifiers

PMID: 8902732
DOI: 10.1016/0022-510x(96)00173-6

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

Sequence Homology, Amino Acid

Sodium Channels