[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].

Article

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Yamagata H, Miki T, Ogihara T

Abstract excerpt

The CTG repeat number in the 3'-untranslated region of the myotonin protein kinase (MTPK) gene varies between 5 and 37 in normal individuals, whereas myotonic dystrophy (DM) patients have expansions from 50 to 3000 copies. However little is known about the molecular mechanisms or the genetic cont...

Topics

Genetics, Population
Homeodomain Proteins
Humans
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase
Protein Kinases
Protein Serine-Threonine Kinases
RNA-Binding Proteins
Trinucleotide Repeats

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.