Results 11 to 20 of about 3,944 (168)
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A) [PDF]
Frontiers in Molecular Neuroscience, 2020 LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Lacramioara Fabian +3 more
doaj +3 more sources
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models [PDF]
Frontiers in Molecular Neuroscience, 2020 Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211.
Stefano Carlo Previtali +2 more
doaj +4 more sources
Congenital muscular dystrophy in a dog with a LAMA2 gene deletion [PDF]
Journal of Veterinary Internal Medicine, 2022 A 2‐year‐old female spayed dog was presented with a chronic history of short‐strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age.
G. Diane Shelton +6 more
doaj +5 more sources
LAMA2 and LOXL4 are candidate FSGS genes [PDF]
BMC Nephrology, 2021 Abstract Background Focal and segmental glomerulosclerosis (FSGS) is a histologic pattern of injury that characterizes a wide spectrum of diseases. Many genetic causes have been identified in FSGS but even in families with comprehensive testing, a significant proportion remain unexplained ...
Poornima Vijayan +9 more
openaire +5 more sources
Stem Cell Research, 2021 LAMA2-related muscular dystrophy (LAMA2-MD) results from mutations in LAMA2 gene, encoding laminin α-2. It is a congenital disease characterized by muscle wasting, with the most severe version being diagnosed within first few months after birth.
Sarka Jelinkova +3 more
doaj +1 more source
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
Orphanet Journal of Rare Diseases, 2021 Background LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants.
Dandan Tan +29 more
doaj +1 more source
LAMA2 Triple Variant in a Mexican Child with Congenital Muscular Dystrophy. [PDF]
Ann Indian Acad NeurolPinto-Escalante D +4 more
europepmc +3 more sources
Atypical phenotype in two patients with LAMA2 mutations [PDF]
Neuromuscular Disorders, 2014 Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac ...
Marques, J +10 more
openaire +4 more sources
LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy [PDF]
Genes, 2021 A 4-month-old, male Italian Greyhound with clinical signs of a neuromuscular disease was investigated. The affected dog presented with an abnormal short-strided gait, generalized muscle atrophy, and poor growth since 2-months of age. Serum biochemistry revealed a marked elevation in creatine kinase activity.
Matthias Christen +6 more
openaire +4 more sources
Dual transgene amelioration of Lama2-null muscular dystrophy
Matrix Biology, 2023 Null mutations of the Lama2-gene cause a severe congenital muscular dystrophy and associated neuropathy. In the absence of laminin-α2 (Lmα2) there is a compensatory replacement by Lmα4, a subunit that lacks the polymerization and α-dystroglycan (αDG)-binding properties of Lmα2.
Karen K. McKee, Peter D. Yurchenco
openaire +2 more sources