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A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy.

Neuromuscular disorders : NMD - 1 Jul 2022

Musumeci Olimpia, Pugliese Alessia, Oteri Rosaria, Volta Sara, Ciranni Anna, Moggio Maurizio, Rodolico Carmelo, Toscano Antonio

Abstract excerpt

Muscle Glycogenosis type 0 (GSD0B) is an extremely rare disorder first recognized in 2007 in three siblings with childhood onset and severe cardiomyopathy. Since then, a few cases with severe cardiac involvement and premature death have been reported. We describe two unrelated cases presenting with an adult-onset myopathy with no heart involvement. Clinical features were quite similar in both patients, mainly...

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PMID: 35641353
DOI: 10.1016/j.nmd.2022.03.008

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