Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.12.011
Abstract: Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2… read more here.
Keywords: clinical molecular; mitochondrial encephalomyopathy; consanguineous family; analysis ... See more keywords
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.001
Abstract: Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to… read more here.
Keywords: albumin gene; consanguineous family; insertion; genetics ... See more keywords
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000179
Abstract: Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are… read more here.
Keywords: consanguineous family; autosomal dominant; cutis laxa; dominant cutis ... See more keywords
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular medicine reports"
DOI: 10.3892/mmr.2017.6465
Abstract: Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the… read more here.
Keywords: site mutation; consanguineous family; family; splice site ... See more keywords