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Article

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.

Brain & development - 1 May 2023

Panicucci Chiara, Casalini Sara, Damasio Beatrice M, Brolatti Noemi, Pedemonte Marina, Biolcati Rinaldi Alessandra, Morando Simone, Doglio Luca, Raffaghello Lizzia, Fiorillo Chiara, Zara Federico, Tasca Giorgio, Bruno Claudio

Abstract excerpt

INTRODUCTION: POMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural history data are available. CASE REPORT: We describe two LGMDR14 patients followed for 20 years since infancy. Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular...

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Identifiers

PMID: 36797079
DOI: 10.1016/j.braindev.2023.01.010

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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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