Title: | A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency |
Journal : | Journal of the neurological sciences, 424 |
Authors: | Bisciglia M ; Froissart R ; Bedat-Millet AL ; Romero NB ; Pettazzoni M ; Hogrel JY ; Petit FM ; Stojkovic T |
Material Type: | Article |
Publisher: | Netherlands, 18/03/2021 |
General note: | Institut de Myologie |
Languages: | English |
Keywords : | case studies ; clinical presentation ; glycogen storage disease ; hereditary metabolic myopathy ; muscle biopsies ; PHKA1 gene ; phosphorylase kinase deficiency |
Keywords: | Cognitive impairment;Muscle glycogenosis;Myopathy;Phosphorylase b kinase; |
Pubmed / DOI : | Pubmed : 33799212 / DOI : 10.1016/j.jns.2021.117391 |
N° Profil MNM : | 2021041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33799212 |