A5101821993- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Histone Deacetylase Inhibitors Research
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
Wuhan No.1 Hospital
2020-2022
Shanghai Jiao Tong University
2021
Central South University
2020
Xiangya Hospital Central South University
2020
Abstract Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, distal limb muscles. A recent report suggested non-coding trinucleotide repeat expansion in LRP12 to be associated with disease. Here we genetic study Chinese cohort 41 patients clinical diagnosis oculopharyngodistal (21 cases from seven families 20 sporadic cases). In large family 12 affected individuals, combined haplotype linkage analysis...