%0 Journal Article
%T PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY
%J Archive of "Acta Myologica".
%D 2019
%X GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes
%K DMD
%K nonsense variants
%K Duchenne/Becker muscular dystrophy congenital myopathy
%K hypotonia
%K NGS
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598409/