Limb-girdle muscular dystrophy autosomal recessive

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

1.	Haltiwanger, Robert S: 1 article (01/2021)
2.	Luther, Kelvin B: 1 article (01/2021)
3.	Matsumoto, Kenjiroo: 1 article (01/2021)

Drugs and Important Biological Agents (IBA) related to Limb-girdle muscular dystrophy autosomal recessive:

1.	GlycosyltransferasesIBA 01/01/2021 - "Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). "
2.	Protons (Proton)IBA 01/01/2023 - "Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track disease progression in muscle disorders, it is still unclear how these findings relate to histopathological changes in muscle biopsies of patients with limb-girdle muscular dystrophy autosomal recessive type 12 (LGMDR12). "
3.	EnzymesIBA 01/01/2021 - "Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). "