A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in DMD gene effecting the expression of dystrophin. Generally female carriers are asymptomatic; however, it has been suggested that carriers may exhibit symptoms. We investigated a 6-year-old Chinese g...

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Veröffentlicht in:	Molecular genetics and genomics : MGG 2021-05, Vol.296 (3), p.541-549
Hauptverfasser:	Chen, Jianfan, Zheng, Hui, Wang, Zhongju, Wang, Jian, He, Fei, Zhang, Cheng, Xiong, Fu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Animal Genetics and Genomics Asian People - genetics Asymptomatic Becker's muscular dystrophy Biochemistry Biomedical and Life Sciences Child Codon, Nonsense - genetics Creatine Creatine kinase Duchenne's muscular dystrophy Dystrophin Female Frameshift mutation Gene expression Heterozygote Human Genetics Humans Life Sciences Lymphocytes Microbial Genetics and Genomics Mosaicism Muscular dystrophy Muscular Dystrophy, Duchenne - genetics Mutants Mutation Nonsense mutation Original Article Peripheral blood Phenotype Phenotypes Plant Genetics and Genomics X Chromosome Inactivation - genetics X chromosomes X-chromosome inactivation
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