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Journal article

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.

Abstract:

Electrophysiologic studies in patients with autosomal dominant myotonia congenita (ADMC) have implicated defects of both muscle membrane sodium and chloride channels. An adult skeletal muscle sodium channel (ASkM1) gene maps to chromosome 17q23-25, and defects in this gene are almost certainly responsible for at least three variants of hyperkalemic periodic paralysis (HPP)--myotonic HPP, nonmyotonic HPP, and paramyotonia congenita. A gene for a muscle chloride channel has not yet been mapped ...

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Publication status:
Published

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Publisher copy:
10.1212/wnl.42.8.1561

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Journal:
Neurology
Volume:
42
Issue:
8
Pages:
1561-1564
Publication date:
1992-08-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:b15a79ef-b11f-487a-9774-eda06552b63a
Source identifiers:
32479
Local pid:
pubs:32479

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