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GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately leads to disruptions of the link between alpha-DG and extracellular proteins, hence dystroglycanopathy. GMPPB-related disorders are inherite …
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately …
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Rodrigues PRDVP, Hrysay NMC, Arndt RC, Werneck LC, Scola RH. Lorenzoni PJ, et al. Arq Neuropsiquiatr. 2023 Oct;81(10):922-933. doi: 10.1055/s-0043-1772833. Epub 2023 Oct 18. Arq Neuropsiquiatr. 2023. PMID: 37852290 Free PMC article. Review.
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes acco …
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predomi …
Diagnosing and managing muscular dystrophy.
Orrell RW. Orrell RW. Practitioner. 2012 Sep;256(1754):21-4, 2-3. Practitioner. 2012. PMID: 23252132 Review.
In Duchenne muscular dystrophy the inheritance is X-linked, with typically only boys affected. Many limb girdle muscular dystrophies are autosomal recessive, affecting only one generation of a family and facioscapulohumeral …
In Duchenne muscular dystrophy the inheritance is X-linked, with typically only boys affected. Many limb girdle …
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V, Savarese M. Nigro V, et al. Acta Myol. 2014 May;33(1):1-12. Acta Myol. 2014. PMID: 24843229 Free PMC article. Review.
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. ...This is useful given the pace of new discoveries. Thity-one loci have been identifi …
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect …
Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.
Angelini C. Angelini C. Acta Myol. 2004 Dec;23(3):130-6. Acta Myol. 2004. PMID: 15938568 Review.
The most common clinical forms are autosomal recessive and with proximal involvement, and are classified as limb-girdle muscular dystrophies 2A-2J, with clinical phenotypes ranging from severe progressive muscular dystrophy …
The most common clinical forms are autosomal recessive and with proximal involvement, and are classified as limb-gir …