Open AccessLate‐onset Pompe disease with a novel mutation and a rare phenotype: A case report
Author(s) -
Si Xiaoli,
Zhang Ruoxia,
Yan Shengqiang,
Zhao Guohua,
Yin Xinzhen,
Zhang Baorong
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.13903
Subject(s) - medicine , missense mutation , compound heterozygosity , cardiomyopathy , glycogen storage disease type ii , disease , age of onset , rhabdomyolysis , gene mutation , pediatrics , myopathy , weakness , enzyme replacement therapy , gastroenterology , mutation , heart failure , genetics , gene , surgery , biology