Ontology highlight
ABSTRACT:
SUBMITTER: Li Q
PROVIDER: S-EPMC7544278 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Li Qiao Q Tan Cheng C Chen Jiajun J Zhang Lei L
Medicine 20201001 41
<h4>Rationale</h4>Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis.<h4>Patient concerns</h4>An 18-year-old woman presented with progressive weakness of limbs, persistent elevated serum creatine kinase, myogenic damages in electromyography, and dysferlin protein deficiency in muscle biopsy. F ...[more]