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Article

Instability of normal (CTG)n alleles in the DM kinase gene.

Journal of medical genetics - 1 Oct 1997

Dow D J, Rubinsztein D C, Yates J R, Barton D E, Ferguson-Smith M A

Abstract excerpt

We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)n repeat mutation. These findings represent a dissociation between (CTG)n repeat instability and myotonic dystrophy. Furthermore, this...

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Identifiers

PMID: 9350827
DOI: 10.1136/jmg.34.10.871
PMCID: PMC1051101

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Instability of normal (CTG)n alleles in the DM kinase gene.PMID 9350827Read ↗

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.Semantic proximity Read ↗

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Semantic proximity Read ↗

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.Semantic proximity Read ↗

Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.Semantic proximity Read ↗

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Semantic proximity Read ↗

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.Semantic proximity Read ↗

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?Semantic proximity Read ↗

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation.Semantic proximity Read ↗

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Premutation allele pool in myotonic dystrophy type 2.Semantic proximity Read ↗

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