New insights into genotype-phenotype correlations in Chinese facioscapulohumeral muscular dystrophy: a retrospective analysis of 178 patients
F Lin, ZQ Wang, MT Lin, SX Murong… - Chinese medical …, 2015 - journals.lww.com
Background: Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal
dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The
complicated genotype-phenotype correlation among different ethnic population remains a
controversial subject. We aimed to refine this correlation in order to provide new information
for genetic counseling. Methods: Here, a cohort of 136 Chinese families including 178
affected individuals and 137 unaffected members were investigated. Genetic analyses were …
dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The
complicated genotype-phenotype correlation among different ethnic population remains a
controversial subject. We aimed to refine this correlation in order to provide new information
for genetic counseling. Methods: Here, a cohort of 136 Chinese families including 178
affected individuals and 137 unaffected members were investigated. Genetic analyses were …