Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.

doi:10.1007/BF00202824

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Article

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter.

Human genetics - 1 May 1994

Tihy F, Vogt N, Recan D, Malfoy B, Leturcq F, Coquet M, Serville F, Fontan D, Guillard J M, Kaplan J C

Abstract excerpt

A girl with severe Becker muscular dystrophy and apparently normal chromosomes had a heterozygous deletion for exons 51, 52, and 53 of the dystrophin gene. This deletion was transmitted by her mother, who was unaffected. To differentiate the normal and the deleted X chromosomes, fluorescence in s...

Topics

Adolescent
Adult
Blotting, Western
Chromosome Deletion
Cytogenetics
DNA
Dosage Compensation, Genetic
Dystrophin
Exons
Female
Humans
In Situ Hybridization, Fluorescence
Muscles
Muscular Dystrophies
Phenotype
Sex Chromosome Aberrations
X Chromosome

Source

Open in PubMed

Identifiers

PMID: 8168835
DOI: 10.1007/BF00202824

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8168835-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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