| Title | : A distal myopathy with polyglucosan bodies. |
| Publication Type | Journal Article |
| Year of Publication | 2020 |
| Authors | Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M |
| Journal | JIMD Rep |
| Volume | 55 |
| Issue | 1 |
| Pagination | 88-90 |
| Date Published | 2020 Sep |
| ISSN | 2192-8304 |
| Abstract | Mutations in glycogenin-1 () cause an adult-onset polyglucosan body myopathy. We report here a patient presenting with late-onset distal myopathy. We wish to highlight this rare clinical phenotype of -related myopathy and the histological clues leading to its diagnosis. |
| DOI | 10.1002/jmd2.12129 |
| Alternate Journal | JIMD Rep |
| PubMed ID | 32905144 |
| PubMed Central ID | PMC7463053 |
Related Faculty:
David Pisapia, M.D.