New progress in genetic study of nemaline myopathy / 中华神经科杂志

ABSTRACT

Nemaline myopathy is a common type of congenital myopathy,and various gene mutations of thin filaments and related components are the causes of the disease.In recent years,a total of 13 gene mutations have been found to be associated with the disease.We review the six new pathogenic genes discovered in the past five years,and summarize gene function,encoded protein,mutation type and clinical features of nemaline myopathy.The pathogenesis of nemaline myopathy is needed to be further explored.