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Article

Founder mutations and the high prevalence of myotonia congenita in northern Finland.

Neurology - 22 Jul 1999

Papponen H, Toppinen T, Baumann P, Myllylä V, Leisti J, Kuivaniemi H, Tromp G, Myllylä R

Abstract excerpt

OBJECTIVE AND BACKGROUND: To find an explanation at the molecular level for the high prevalence of myotonia congenita in northern Finland and the exceptional pattern of inheritance of the disease in many families, and to study genotype-phenotype correlation in the patients. METHODS: Forty-six patients with myotonia congenita and 16 unaffected relatives from 24 families were studied. All 23 exons and their...

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Source

Identifiers

PMID: 10430417
DOI: 10.1212/wnl.53.2.297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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