Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245884
Abstract: Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is… read more here.
Keywords: novel mutation; mutation causing; congenital disorder; glycosylation child ... See more keywords
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-190425
Abstract: BACKGROUND The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now… read more here.
Keywords: congenital myopathy; myotonia; novel novo; novo heterozygous ... See more keywords