[DNA diagnosis in myotonic dystrophy].

Article

[DNA diagnosis in myotonic dystrophy].

[Hokkaido igaku zasshi] The Hokkaido journal of medical science - 1 Jan 1996

Tachi N

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal-dominant, multisystemic disorder characterized by myotonia, progressive muscle atrophy and weakness, cardiac conduction defect, mental retardation, and cataracts. The phenotypic expression of DM varies from asymptomatic adults to severely affected neonates...

Topics

Haplotypes
Humans
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase
Polymerase Chain Reaction
Protein Kinases
Protein Serine-Threonine Kinases
RNA, Messenger
Trinucleotide Repeats

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