The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.

ABSTRACT:

Background

The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study aimed to investigate the clinical and pathological features of genetically diagnosed LSM in northern China, analyze genetic mutations' characteristics, and improve the LSM diagnostic rate.

Methods

Twenty patients with LSM diagnosed were collected; meanwhile, the clinical data, muscle samples, and routine pathological staining of muscle specimens were collected. The morphological changes of muscle fibers were observed under an optical microscope.

Results

Among the included patients, 18 cases had ETFDH (HGNC ID: 3483) mutations, and two had P

SUBMITTER: Han J 

PROVIDER: S-EPMC10388001 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature