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Article

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

Neurology - 1 Apr 1993

Feero W G, Wang J, Barany F, Zhou J, Todorovic S M, Conwit R, Galloway G, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K

Abstract excerpt

We studied mutations of the adult voltage-gated skeletal muscle sodium channel gene in 12 families, from diverse ethnic backgrounds, with hyperkalemic periodic paralysis (HyperPP). We describe a novel procedure, using ligase chain reaction (LCR), to simultaneously identify two different point mutations (previously described) and one rare, apparently benign polymorphism that results in a nonconservative amino acid...

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Identifiers

PMID: 8385748
DOI: 10.1212/wnl.43.4.668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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