Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
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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
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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