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Article

Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.

Muscle & nerve - 1 Feb 2013

Little Ann A, McKeever Paul E, Gruis Kirsten L

Abstract excerpt

INTRODUCTION: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness. METHODS: Case report. RESULTS: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations. CONCLUSIONS: This case...

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Source

Identifiers

PMID: 23169617
DOI: 10.1002/mus.23542

Genes

ANO5

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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