Results 21 to 30 of about 3,944 (168)
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
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Molecular Therapy: Methods & Clinical Development, 2021 Gene replacement for laminin-α2-deficient congenital muscular dystrophy 1A (MDC1A) is currently not possible using a single adeno-associated virus (AAV) vector due to the large size of the LAMA2 gene.
Davin Packer, Paul T. Martin
doaj +1 more source
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) [PDF]
Journal of Neuropathology & Experimental Neurology, 2020 Abstract Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities.
Himali Jayakody +12 more
openaire +2 more sources
Muscle-Specific Kinase Signaling and Its Therapeutic Potential. [PDF]
Muscle NerveABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Jensen SM, Vergoossen DLE, Huijbers MG.
europepmc +2 more sources
Novel LAMA2 variants identified in a patient with white matter abnormalities [PDF]
Human Genome Variation, 2020 AbstractComprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 +
Keiko Yamamoto-Shimojima +3 more
openaire +2 more sources
LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling
Stem Cell Research & Therapy, 2020 Background Bone defects are a common clinical condition that has gained an increasing amount of attention in recent years. Causes of bone defect include tumors, inflammation, and fractures. Bone tissue engineering is a novel treatment of bone defect, and
Yuan Zhu +10 more
doaj +1 more source
Outcome Measures for COL6 and LAMA2-Related Dystrophies
Pediatric Neurology Briefs, 2020 Investigators from the NIH performed a longitudinal, prospective, natural history study looking at patients with COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs), the two most common congenital muscular dystrophies (CMDs).
Schwaede, Abigail N., Kuntz, Nancy L.
openaire +4 more sources
Severe Congenital Muscular Dystrophy in a LAMA2-Mutated Case [PDF]
Pediatric Neurology, 2007 Clinical features and molecular data are described for a patient with undetectable expression of laminin alpha2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations.
Blasi, C. Di +4 more
openaire +3 more sources
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
doaj +1 more source
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
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
doaj +1 more source