Neurology. 1998 May;50(5):1501-4.

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy.

Simmons Z, Thornton CA, Seltzer WK, Richards CS.

Source

Division of Neurology, The Pennsylvania State University College of Medicine, Hershey 17033, USA.

Abstract

The genetic basis for myotonic dystrophy (DM) is a CTG trinucleotide repeat expansion. The number of CTG repeats commonly increases in affected individuals of successive generations, in association with anticipation. We identified a large DM family in which multiple members had minimal CTG repeat expansions, and in which the number of CTG repeats remained in the minimally expanded range through at least three, and possibly four, generations. This relative stability of minimal CTG repeat expansions may help to maintain the DM mutation in the population.

PMID:: 9596022; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Case Reports

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Supplemental Content

Save items

Related citations in PubMed

DNA analysis of a pedigree with myotonic dystrophy in Songjiang county, Shanghai. [Zhonghua Yi Xue Yi Chuan Xue Z...]
DNA analysis of a pedigree with myotonic dystrophy in Songjiang county, Shanghai.
Xie H, Zheng H, Zheng S, Deng B, Xu J, Cui Y, Wang Y, Xu Z, Ren D. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Oct; 17(5):319-22.
Detection of the CTG repeat expansion in congenital myotonic dystrophy. [Jpn J Hum Genet. 1997]
Detection of the CTG repeat expansion in congenital myotonic dystrophy.
Ohya K, Tachi N, Sato T, Kon S, Kikuchi K, Chiba S. Jpn J Hum Genet. 1997 Mar; 42(1):169-80.
Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy. [Genet Epidemiol. 1996]
Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy.
López de Munain A, Cobo AM, Sáenz A, Blanco A, Poza JJ, Martorell L, Martí-Massó JF, Baiget M. Genet Epidemiol. 1996; 13(5):483-7.
Review [Molecular genetics of myotonic dystrophy]. [Rinsho Shinkeigaku. 1995]
Review [Molecular genetics of myotonic dystrophy].
Miki T, Yamagata H, Ogihara T. Rinsho Shinkeigaku. 1995 Dec; 35(12):1479-81.
Review [DNA diagnosis in myotonic dystrophy]. [Hokkaido Igaku Zasshi. 1996]
Review [DNA diagnosis in myotonic dystrophy].
Tachi N. Hokkaido Igaku Zasshi. 1996 Jan; 71(1):3-8.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.

Recent activity

Clear Turn Off Turn On

Relative stability of a minimal CTG repeat expansion in a large kindred with myo...
Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy.
Neurology. 1998 May ;50(5):1501-4.

PubMed
The burden, trends, and demographics of mortality from subarachnoid hemorrhage.
The burden, trends, and demographics of mortality from subarachnoid hemorrhage.
Neurology. 1998 May ;50(5):1413-8.

PubMed
Quantification of bone mineralization using computed tomography.
Quantification of bone mineralization using computed tomography.
Radiology. 1976 Oct ;121(1):93-7.

PubMed
Kappa-like indices of observer agreement viewed from a latent class perspective.
Kappa-like indices of observer agreement viewed from a latent class perspective.
Stat Med. 1998 Apr 30 ;17(8):797-812.

PubMed
Church-related correlates of tobacco use among Lumbee Indians in North Carolina.
Church-related correlates of tobacco use among Lumbee Indians in North Carolina.
Ethn Dis. 1998 Winter ;8(1):73-80.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: