Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted lin...

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Bibliographic Details
Published inNeurology Vol. 44; no. 8; p. 1448
Main Authors Ricker, K, Koch, M C, Lehmann-Horn, F, Pongratz, D, Otto, M, Heine, R, Moxley, 3rd, R T
Format Journal Article
LanguageEnglish
Published United States 01.08.1994
Subjects
Adult
Aged
Cataract - complications
Cataract - genetics
DNA - analysis
Electromyography
Female
Genetic Linkage
Humans
Male
Middle Aged
Muscular Diseases - complications
Muscular Diseases - genetics
Muscular Diseases - physiopathology
Myotonia - complications
Myotonia - genetics
Pedigree
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Summary:We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.
ISSN:0028-3878
DOI:10.1212/wnl.44.8.1448