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Article

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.

Human genetics - 1 Jul 1991

Covone A E, Lerone M, Romeo G

Abstract excerpt

The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had deletions in the dystrophin gene. Two different methods were used in this study: (a) hybridization of HindIII-digested genomic DNA with nine cDNA probes corresponding to the entire 14kb cDNA of the DMD gene; and (b) s...

Topics

Adolescent
Child
Child, Preschool
Chromosome Deletion
Dystrophin
Female
Genotype
Humans
Infant
Male
Mosaicism
Muscular Dystrophies
Nucleic Acid Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Polymerase Chain Reaction

Source

Identifiers

PMID: 1864612
DOI: 10.1007/BF00200919

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1864612-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.PMID 1864612Read ↗

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