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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. [ABSTRACT FROM AUTHOR]

Since there is currently a lack of data on the natural history of Odorrana chapaensis, an amphibian species listed in the IUCN Red List (2019), we herein provided the feeding ecology of this amphibian species is virtually lacking. We herein provide data about the diet of O. chapaensis based on the results of our field work in Ngoc Chien Commune, Muong La District and Xim Vang Commune, Bac Yen District, Son La Province, Vietnam. We used the stomach-flushing method to obtain the stomach contents of 85 individuals at two survey sites. A total of 20 prey categories with 334 items, comprising 299 items of invertebrates and 35 unidentified items, were found in the stomachs of O. chapaensis. The dominant prey items of O. chapaensis were Araneae, Polydesmida, insect larvae, Blattodea, Coleoptera, Dermaptera, Lepidoptera, Hymenoptera, and Orthoptera. The importance index for these categories ranged from 3.5% to 32.5%. Coleoptera was the category with the highest frequency of prey items and its representatives were found in 45 stomaches. [ABSTRACT FROM AUTHOR]