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MORANDO , Simone

Last name: MORANDO

First name: Simone

2023 (v1)

Publication

Metadata-only

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

Panicucci, Chiara Casalini, Sara Damasio, Beatrice M

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...

Uploaded on: February 4, 2024