New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy

Abstract

Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a majority of phenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our results suggest that there are multi-factors synergistically modulating the phenotypic expression.