Results 1 to 10 of about 20,235 (200)
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
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
Stem Cell Research, 2022 LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui +5 more
doaj +1 more source
Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology
Frontiers in Molecular Neuroscience, 2020 LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and ...
Anthony Accorsi +2 more
doaj +1 more source