Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
November 1, 1993Archives of Neurology

Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases

View Full Paper
Ask AI
Bookmark
Share

Population

Patients with human skeletal muscle sodium channel diseases

Design

Review

Authors

RRReinhardt RüdelUniversität UlmKRK. RickerUniversity of MinnesotaFLF. Lehmann‐HornUniversität Ulm

Discussion

Loading...

Member takes

Implication

May enable molecular diagnosis in suspected cases; leaves open full mutation spectrum and genotype-phenotype correlations.

Structured PICO

P
Population
Patients with human skeletal muscle sodium channel diseases (adynamia-paramyotonia complex, paramyotonia congenita, hyperkalemic and normokalemic periodic paralysis)
O
Outcome
Genotype-phenotype correlations

The review highlights that diseases of the adynamia-paramyotonia complex are caused by point mutations in the skeletal muscle sodium channel alpha subunit gene.

Cite This Study

Rüdel et al. (1993) studied this question.

synapsesocial.com/papers/6a70a2f0ac440176ef294d97https://doi.org/10.1001/archneur.1993.00540110113011
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.1993 · 210 citations
  2. 2Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis1993 · 129 citations
  3. 3Linkage of atypical myotonia congenita to a sodium channel locus1992 · 61 citations
  4. 4Membrane defects in paramyotonia congenita with and without myotonia in a warm environment1981 · 94 citations
  5. 5Acetazolamide‐responsive myotonia congenita1987 · 72 citations