Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A [PDF]
European Journal of Translational Myology, 2023 The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua +13 more
doaj +2 more sources
Fukuyama Congenital Muscular Dystrophy. [PDF]
Cureus, 2022 Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described
Agarwal A, Sabat S, Kanekar S.
europepmc +4 more sources
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients [PDF]
Frontiers in Genetics, 2023 Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran +14 more
doaj +2 more sources
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy [PDF]
Frontiers in Genetics, 2021 Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue.
P. A. Chausova +5 more
doaj +2 more sources
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy [PDF]
Molecular Therapy: Nucleic Acids, 2017 Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients.
Elena Marrosu +3 more
doaj +4 more sources
Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]
, 2010 Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Brockington, M +7 more
core +19 more sources
Frontiers in Genetics, 2023 Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
doaj +1 more source
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
doaj +1 more source
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian Journal of Pathology and Microbiology, 2022 Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
doaj +1 more source