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

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.

Source: Brain and Development - February 14, 2023 Category: Neurology Authors: Chiara Panicucci, Sara Casalini, Beatrice M. Damasio, Noemi Brolatti, Marina Pedemonte, Alessandra Biolcati Rinaldi, Simone Morando, Luca Doglio, Lizzia Raffaghello, Chiara Fiorillo, Federico Zara, Giorgio Tasca, Claudio Bruno Tags: Case Report Source Type: research