Results 31 to 40 of about 3,708 (153)

Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics

Frontiers in Molecular Neuroscience, 2020
Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating neuromuscular disease caused by mutations in the LAMA2 gene. These mutations result in the complete absence or truncated expression of the laminin-α2 chain.
Pamela Barraza-Flores, Christina R. Bates, Ariany Oliveira-Santos, Dean J. Burkin   +3 more
doaj   +1 more source

Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy [PDF]

Iran Biomed J, 2018
Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare autosomal recessive genetic disease occurred due to mutations in the LAMA2 gene. This study investigated the molecular genetics of three Iranian MDC1A patients who manifested hypotonia, muscle weakness at birth, elevated levels of creatine kinase, and normal magnetic resonance imaging ...
Hashemi-Gorji F, Yassaee VR, Dashti P, Miryounesi M.   +3 more
europepmc   +4 more sources

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review

Frontiers in Neurology, 2023
The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs.
Duo-Zi Wang, Bing-Hu Li, Qiong Ma, Zhou Yu, Kai Chen, Ying He, Song Tan, Song Tan, Song Tan   +8 more
doaj   +1 more source

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)

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, James J. Dowling, James J. Dowling, James J. Dowling   +3 more
doaj   +1 more source

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models

Frontiers in Molecular Neuroscience, 2020
Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality—aberrant white matter signals by MRI—when first described in the 1990s.
Andrea J. Arreguin, Andrea J. Arreguin, Holly Colognato   +2 more
doaj   +1 more source

Additional file 1 of LAMA2 and LOXL4 are candidate FSGS genes

, 2021
Additional file 1. In silico predictions for LAMA2 (Table 1) and LOXL4 (Table 2).
Vijayan, Poornima, Hack, Saidah, Yao, Tony, Qureshi, Mohammad Azfar, Paterson, Andrew D., John, Rohan, Davenport, Bernard, Lennon, Rachel, Pei, York, Barua, Moumita   +9 more
openaire   +1 more source

Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD

Skeletal Muscle, 2020
Background Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating genetic disease caused by mutations in the LAMA2 gene. These mutations result in progressive muscle wasting and inflammation leading to delayed milestones, and ...
Pamela Barraza-Flores, Hailey J. Hermann, Christina R. Bates, Tyler G. Allen, Timothy T. Grunert, Dean J. Burkin   +5 more
doaj   +1 more source

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC Medical Genomics, 2021
Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai   +5 more
doaj   +1 more source

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Frontiers in Neurology, 2023
Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23).
Matthew Katz, Leigh B. Waddell, Leigh B. Waddell, Michaela Yuen, Michaela Yuen, Samantha J. Bryen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Sandra T. Cooper, Sandra T. Cooper, Pamela A. McCombe, Pamela A. McCombe   +16 more
doaj   +1 more source

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping [PDF]

Brain, 2001
Nonsense mutations outside the splicing consensus sequence have been reported to cause skipping of the nonsense-containing exon in several human diseases. We describe, for the first time, nonsense-mediated exon skipping in the laminin alpha2 (LAMA2) gene.
C, Di Blasi, Y, He, L, Morandi, F, Cornelio, P, Guicheney, M, Mora   +5 more
openaire   +2 more sources