Title: | A novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia |
Journal : | Muscle & Nerve, 57, 1 |
Authors: | Chéraud C, Author ; Froissart R ; Lannes B ; Echaniz-Laguna A |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 157 |
Languages: | English |
Keywords : | camptocormia ; case studies ; début tardif de la maladie ; genetic mutations ; McArdle disease ; ptosis ; PYGM gene |
Keywords: | McArdle disease;PYGM;camptocormia;elderly;glycogen storage disease;myopathy; |
Pubmed / DOI : | DOI : 10.1002/mus.25588 / Pubmed : 28120463 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28120463 |