LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Case Reports in Genetics, 2018 Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
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Laminin-α2 chain deficiency in skeletal muscle causes dysregulation of multiple cellular mechanisms [PDF]
Life Science AllianceThis work reveals the defects caused by the absence of laminin-α2, including impaired myoblast proliferation and differentiation, DNA damage, oxidative stress, and mitochondrial dysfunction, highlighting its important role in muscle development and ...
Susana G Martins +17 more
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Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2–deficient muscle [PDF]
JCI InsightLaminin-α2–related congenital muscular dystrophy (LAMA2-CMD) is a severe neuromuscular disorder caused by mutations in the LAMA2 gene, leading to loss of heterotrimers laminin-211/221, key components of the skeletal muscle extracellular matrix.
Hailey J. Hermann +8 more
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Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy [PDF]
Antioxidants, 2020 Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe neuromuscular disorder without a cure. Using transcriptome and proteome profiling as well as functional assays, we previously demonstrated significant metabolic ...
Vahid M. Harandi +5 more
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Psychological impact of motor impairment in tow forms of congenital muscular dystrophy [PDF]
European Psychiatry, 2023 Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development.
I. Boujelbene +7 more
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The congenital muscular dystrophies. [PDF]
Ann Child Neurol SocAbstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations in LMNA‐related muscular dystrophy and some collagen‐6‐associated disorders. Results CMD is characterized
Topaloğlu H, Poorshiri B.
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Human Molecular Genetics, 2019 AbstractCongenital muscular dystrophy type-1A (Lama2-CMD) and Duchenne muscular dystrophy (DMD) result from deficiencies of laminin-α2 and dystrophin proteins, respectively. Although both proteins strengthen the sarcolemma, they are implicated in clinically distinct phenotypes.
Stella Mitrani-Rosenbaum +2 more
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Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin
Molecular Therapy - Methods and Clinical Development, 2018 LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene ...
Sheryl S Moy, Yi Dai, Quan Jin
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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness [PDF]
Frontiers in Molecular Neuroscience, 2020 Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency.
Anna Sarkozy +5 more
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Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
Frontiers in Genetics, 2018 Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD).
Jing Zhou +8 more
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