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Article

Problems arising in correlating clinical and molecular data in myotonic dystrophy.

Clinical genetics - 1 Jun 1995

Giordano M, De Angelis M S, Cantello R, Abdirisak N A, Mutani R, Momigliano Richiardi P

Abstract excerpt

The number of copies of CTG trinucleotide repeats in the myotonic dystrophy gene correlates to a certain degree with the clinical symptoms in the patient. Routine molecular analysis of myotonic dystrophy is performed on peripheral blood cells detecting the size of the expansion in leukocytes. However, in some cases somatic mosaicism is responsible for the presence of differently sized myotonic dystrophy alleles...

Topics

Adult
Alleles
Blotting, Southern
Child
DNA
Female
Humans
Leukocytes
Male
Middle Aged
Myotonic Dystrophy
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 7554363
DOI: 10.1111/j.1399-0004.1995.tb03969.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7554363-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Problems arising in correlating clinical and molecular data in myotonic dystrophy.PMID 7554363Read ↗

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