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From the field survey research between 2012 and 2021, we herein provide a list of 39 threatened species of amphibians and reptiles from Son La Province. Of these, the following species have high conservation values: two species are listed in the Governmental Decree No. 64/2019/ND-CP, 12 species are listed in the Governmental Decree No. 84/2021/ND-CP, 12 species are listed in the CITES Appendices, 22 species are listed in the Vietnam Red Data Book (2007), and 24 species are listed in the IUCN Red List (2022). In addition, 21 species are being exploited for food and wildlife trade by local people. Major threats to the habitat and populations of amphibians and reptiles in the study areas include deforestation, slash-and-burn cultivation, hunting activities, exploitation of forest products, quarrying, hydropower and road construction, as well as overharvesting for food and trade. The research results provide a scientific base for conservation and management of amphibians, reptiles and biodiversity of Son La Province.

Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative neuromuscular disease associated with at least nine genes, including EMD, LMNA, FHL1, TMEM43, SUN1, SUN2, TTN, SYNE1, and SYNE2. Herein, we identified a heterozygous missense LMNA mutation (NM_170707.4: c.1357C>T,p.R453W) in three members of a Vietnamese family using whole-exome sequencing (WES), in which the proband was an 11-year-old girl presenting humeroperoneal muscle weaknesses and generalized contracture. Her father and one other relative also exhibited multiple signs of muscular atrophy and contracture. Sanger sequencing in the extended family verified the causative nature of this mutation, establishing a confirmed diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2). The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.