This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV.
Loss of function mutations in HOIL-1L and HOIP result in largely overlapping phenotypes, characterized by multi-organ autoinflammation, immunodeficiency, and amylopectinosis.
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.
The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency).
The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency).
Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis.
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues.
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.