Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
| Autor: | Xiafei Dai, Huihui Ma, Xiaoping Li, Chenqing Zheng, Yibin Tang, Chao Yan, Xuepin Chen, Hongmei Zhang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
Weakness lcsh:QH426-470 Emerin lcsh:Life Bioinformatics Biochemistry Sudden death DNA sequencing 03 medical and health sciences Exon Genetics Data Report Medicine Muscular dystrophy Emery–Dreifuss muscular dystrophy Molecular Biology 030304 developmental biology 0303 health sciences business.industry 030305 genetics & heredity Rare variants medicine.disease lcsh:Genetics lcsh:QH501-531 Cardiovascular diseases Mutation (genetic algorithm) medicine.symptom business |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019) |
| ISSN: | 2054-345X |
| Popis: | Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified. |
| Databáze: | OpenAIRE |
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