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Article

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

Nature genetics - 1 Apr 1993

George A L, Crackower M A, Abdalla J A, Hudson A J, Ebers G C

Abstract excerpt

Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigrees with this disorder for mutations in HUMCLC. Abnormal bands were detected in all affected, but no unaffected individuals...

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PMID: 7981750
DOI: 10.1038/ng0493-305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).PMID 7981750Read ↗

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