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STAC3 related congenital myopathy: A case series of seven Comorian patients
Eur J Med Genet. 2022 Aug 24:104598. doi: 10.1016/j.ejmg.2022.104598. Online ahead of print.ABSTRACTThe Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) triggered by anesthesia. NAM is linked to STAC3 gene coding for a component of excitation-contraction coupling in skeletal muscles. A homozy...
Source: European Journal of Medical Genetics - August 27, 2022 Category: Genetics & Stem Cells Authors: Marie Gromand Paul Gueguen Anne Pervill é Fanny Ferroul Godelieve Morel Anrifati Harouna B érénice Doray J Andoni Urtizberea Jean-Luc Alessandri St éphanie Robin Source Type: research

Implementation of a comprehensive gene screening test for familial hypercholesterolaemia using next generation sequencing
NICE recommends comprehensive genetic testing in all patients clinically diagnosed with FH and genetic cascade testing of at-risk relatives. However, FH genetic testing in the UK has not been universally commissioned such that only 15% of the estimated 100,000 cases of FH in England have been diagnosed. Bristol Genetics Laboratory currently analyses over 300 FH diagnostic cases annually and is implementing a more cost effective, comprehensive, FH testing service using next generation sequencing. The targeted capture assay (Agilent HaloPlex) is designed to sequence all coding regions of LDLR, PCSK9, APOB and LDLRAP1 as well...
Source: Atherosclerosis - November 25, 2013 Category: Cardiology Authors: P. Dean, L. Yarram, G. Dennis, G. Bayly, A. Taylor, A. Day, K. Haralambos, S. Whatley, I. McDowell, E. Roberts, M. Greenslade, M. Williams Source Type: research