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Article

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Neuromuscular disorders : NMD - 1 Oct 2016

Todeschini Alice, Gualandi Francesca, Trabanelli Cecilia, Armaroli Annarita, Ravani Anna, Fanin Marina, Rota Silvia, Bello Luca, Ferlini Alessandra, Pegoraro Elena, Padovani Alessandro, Filosto Massimiliano

Abstract excerpt

We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27616544
DOI: 10.1016/j.nmd.2016.08.007

Genes

DMD

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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