HU Xiang-Wen,TANG Wen-Yan,GAO Ju-Mei. Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate[J]. CJCP, 2019, 21(5): 497-498.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[2]
Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop:nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands[J]. Neuromuscul Disord, 2000, 10(4-5):299-306.
Ravenscroft G, Miyatake S, Lehtokari VL, et al. Mutation in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy[J]. Am J Hum Genet, 2013, 93(1):6-18.