Open AccessNovel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges
Author(s) -
Wang CongCong,
Yang Bing,
Liu Ying,
Li XiaoLi,
Liu Bin,
Duan RuiSheng
Publication year - 2022
Publication title -
cns neuroscience and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 69
eISSN - 1755-5949
pISSN - 1755-5930
DOI - 10.1111/cns.13939
Subject(s) - myopathy , glycogen phosphorylase , phosphorylase kinase , biology , exercise intolerance , glycogen storage disease , muscle biopsy , muscle weakness , medicine , endocrinology , myoglobinuria , glycogen synthase , muscle cramp , glycogen , rhabdomyolysis , genetics , biopsy , heart failure