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Article

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

Muscle & nerve - 1 Jan 2017

Pons Roser, Kekou Kyriaki, Gkika Artemis, Papadimas George, Vogiatzakis Nikolaos, Svingou Maria, Papadopooulos Constantinos, Nikas Ioanis, Dinopoulos Argirios, Youroukos Sotiris, Kanavakis Emmanouel

Abstract excerpt

INTRODUCTION: The dystrophinopathies include a spectrum of muscle diseases caused by mutations in the dystrophin (DMD) gene. The clinical phenotype ranges from severe Duchenne muscular dystrophy to a mild phenotype with elevated creatine kinase (CK). METHODS: Clinical and molecular assessment of 7 patients carrying a single amino acid loss in the dystrophin protein (p.His1690del) caused by a c.5068_5070delCAC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27178005
DOI: 10.1002/mus.25190

Genes

DMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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