Open AccessGYG1 : A distal myopathy with polyglucosan bodies
Author(s) -
Nicolau Stefan,
Tracy Jennifer A.,
Pisapia David J.,
Tanji Kurenai,
Milone Margherita
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12129
Subject(s) - myopathy , phenotype , medicine , pathology , clinical phenotype , biology , genetics , gene
Mutations in glycogenin‐1 ( GYG1 ) 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 GYG1 ‐related myopathy and the histological clues leading to its diagnosis.