Jinlan Li, Jie Zhou, Chunbo Ji, Siqing Ma, Jianying Zhu, Tiejun Yang, Danyang Dong, Yang Ping
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引用次数: 0
Abstract
This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was diagnosed with limb-girdle muscular dystrophy type 2B (LGMD2B). Genetic testing revealed compound heterozygous mutations in the DYSF gene, specifically the missense mutation c.6313G>A (p.Ala2105Thr). Another variant, c.4444del (p.Glu1482Serfs*43), is a frameshift mutation. This case provides further confirmation of the LGMD2B diagnosis. It also identifies novel compound heterozygous DYSF mutations. These findings have significant implications for the diagnosis and research of genetic diseases, the management of at-risk individuals and the development of new therapies.
Frontiers in GeneticsBiochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
5.50
自引率
8.10%
发文量
3491
审稿时长
14 weeks
期刊介绍：
Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public.
The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.
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