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Article

Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance.

Current gene therapy - 1 Jan 2018

Perez-Sanchez Inmaculada, Sabater-Molina Maria, Rocamora Maria Elisa Nicolas, Glover Guillermo, Escudero Fuensanta, de Mingo Casado Pedro, Gimeno-Blanes Juan Ramon

Abstract excerpt

Duchenne muscular dystrophy is a disorder with variable expression caused by framedisrupting mutations in the dystrophin gene. It is characterized by progressive muscle weakness and dilated cardiomyopathy. In-frame dystrophin mutations cause a clinically moderate disorder named Becker muscular dystrophy. Our aim was to study the clinical and genetic characteristics of a family with inherited cardiomyopathy and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29984652
DOI: 10.2174/1566523218666180709125346

Genes

DMD
MYBPC3
KCNJ5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance.PMID 29984652Read ↗

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