Article
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Annals of neurology - 1 Aug 2020
Echaniz-Laguna Andoni, Lornage Xavière, Laforêt Pascal, Orngreen Mette C, Edelweiss Evelina, Brochier Guy, Bui Mai T, Silva-Rojas Roberto, Birck Catherine, Lannes Béatrice, Romero Norma B, Vissing John, Laporte Jocelyn, Böhm Johann
Abstract excerpt
OBJECTIVE: Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. In this study, we aimed to molecularly characterize the first family with a dominant GSD. METHODS: We describe a dominant GSD family with 13 affected members presenting with adult-onset muscle weakness, and we...
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