Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.4977
Abstract: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. read more here.
Keywords: fetal akinesia; mutations neb; multiplex congenita; neb gene ... See more keywords
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.08.014
Abstract: Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes… read more here.
Keywords: akinesia; fetal akinesia; pigs encoding; encoding gpi ... See more keywords
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.01.013
Abstract: Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and… read more here.
Keywords: fetal akinesia; lethal multiple; nebulin gene; multiple pterygium ... See more keywords
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000248
Abstract: Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a… read more here.
Keywords: deformation sequence; form; neuromuscular form; akinesia deformation ... See more keywords
Null variants in AGRN cause lethal fetal akinesia deformation sequence
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13677
Abstract: We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3‐36 exons of AGRN. Pathogenic variants in AGRN have been described… read more here.
Keywords: fetal akinesia; lethal fetal; variants agrn; akinesia deformation ... See more keywords