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Article

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.

Neuromuscular disorders : NMD - 1 Jan 2014

Joshi Pushpa Raj, Gläser Dieter, Dreßel Carolin, Kress Wolfram, Weis Joachim, Deschauer Marcus

Abstract excerpt

We report a 45year-old patient with an asymmetrical proximal muscle weakness affecting the quadriceps muscle of the right leg starting at the age of 32years. CK was 25-fold increased. MRI of the legs showed signs of fatty degeneration more pronounced in the right side. Biopsy of a thigh muscle sh...

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Source

Identifiers

PMID: 24239059
DOI: 10.1016/j.nmd.2013.09.003

Genes

ANO5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24239059-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.PMID 24239059Read ↗

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