O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)

Authors :: Bruno Eymard
P. Laforêt
Xavière Lornage
J. Vissing
E. Edelweiss
Jocelyn Laporte
Johann Böhm
Andoni Echaniz-Laguna
Source :: Neuromuscular Disorders. 29:S39
Publication Year :: 2019
Publisher :: Elsevier BV, 2019.

Subjects :: chemistry.chemical_compound
Neurology
Glycogen
chemistry
Myophosphorylase
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Neurology (clinical)
Biology
Gene
Molecular biology
Genetics (clinical)

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