Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous <i>MSTO1</i> variants.

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants.

Liu, Liqun; Su, Ruiting; Huang, Peng; Li, Xingfang; Xiong, Jie; Xiao, Yangyang; Mao, Dingan; Liu, Lingjuan.

Afiliación

Liu L; Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.
Su R; Department of Pediatric Neurology, Patientren's Medical Center, Xiangya Hospital of Central South University, Changsha, China.
Huang P; Department of Clinical Medicine, Xiangya Medical College, Central South University, Changsha, China.
Li X; Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.
Xiong J; Department of Pediatric Neurology, Patientren's Medical Center, Xiangya Hospital of Central South University, Changsha, China.
Xiao Y; Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.
Mao D; Department of Pediatric Neurology, Patientren's Medical Center, Xiangya Hospital of Central South University, Changsha, China.
Liu L; Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, China.

Front Genet ; 13: 947886, 2022.

Article en En | MEDLINE | ID: mdl-36035138