Results 1 to 10 of about 3,643 (133)

Hypoglycemia in Patients With LAMA2-CMD

Pediatric Neurology, 2023
Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date.A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into two groups: a hypoglycemic group, with at least one episode of hypoglycemia ...
Umbertina Reed, Edmar Zanoteli
exaly   +3 more sources

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. LAMA2 encodes laminin α2, a subunit of the extracellular matrix (ECM) oligomer laminin 211.
James Dowling, Lacramioara Fabian, Dowling James J   +2 more
exaly   +4 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. The disease is predominantly characterized by progressive muscular dystrophy affecting patient motor function and reducing life ...
Alberto A Zambon, Stefano Carlo Previtali   +1 more
exaly   +5 more sources

Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET [PDF]

Therapeutic Advances in Endocrinology and Metabolism, 2019
The laminin subunit alpha 2 (LAMA2) gene encodes an alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). In the current study, we investigated the relationship between LAMA2 promoter methylation status and the invasiveness of clinically nonfunctioning pituitary adenomas (PitNETs).
Bo Zhang, Yan Ding, Jia-Cheng Lou
exaly   +4 more sources

A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian Federation. [PDF]

Int J Mol Sci
LAMA2-associated muscular dystrophy is a rare genetic disorder caused by pathogenic or likely pathogenic variants in the LAMA2 gene. The aim of this study is to characterize the spectrum of pathogenic/likely pathogenic variants in the LAMA2 gene among Russian patients, identify frequent pathogenic variants specific to this population, and estimate the ...
Chausova P, Cherevatova T, Dadali E, Murtazina A, Bulakh M, Kurbatov S, Anisimova I, Kanivets I, Udalova V, Rudenskaya G, Demina N, Sharkova I, Monakhova A, Tsygankova P, Markova T, Ryzhkova O, Shatohina O, Galkina V, Borovikov A, Mishina I, Shchagina O, Chukhrova A, Polyakov A.   +22 more
europepmc   +3 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, Saidah Hack, Tony Yao, Mohammad Azfar Qureshi, Andrew D. Paterson, Rohan John, Bernard Davenport, Rachel Lennon, York Pei, Moumita Barua   +9 more
openaire   +5 more sources

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion [PDF]

Journal of Veterinary Internal Medicine, 2022
Abstract 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. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography,
G. Diane Shelton, Katie M. Minor, Stephanie Thomovsky, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson   +6 more
openaire   +5 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, Duarte, S, Costa, S, Jacinto, S, Oliveira, J, Oliveira, M, Santos, R, Bronze-da-Rocha, E, Silvestre, AR, Calado, E, Evangelista, T   +10 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

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, Victoria Indzhova, Ling T. Guo, Vidhya Jagannathan, Tosso Leeb, G. Diane Shelton, Josep Brocal   +6 more
openaire   +4 more sources