Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic varian...

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Bibliographic Details
Main Authors: Massimiliano Filosto, Stefano Cotti Piccinelli, Anna Pichiecchio, Olimpia Musumeci, Anna Galvagni, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Raimondo Vitale, Alessandro Padovani, Antonio Toscano
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Neurology
Subjects:
glycogenosis VII
muscle MRI
PFK deficiency
cyclosporine
amiodarone
GSD VII
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00077/full

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