Results 31 to 40 of about 690 (122)

Laminin α2 chain-deficiency is associated with microRNA deregulation in skeletal muscle and plasma

Frontiers in Aging Neuroscience, 2014
MicroRNAs (miRNAs) are widespread regulators of gene expression, but little is known of their potential roles in congenital muscular dystrophy type 1A (MDC1A).
Johan eHolmberg, Azra eAlajbegovic, Kinga Izabela Gawlik, Linda eElowsson, Madeleine eDurbeej   +4 more
doaj   +1 more source

Bortezomib Does Not Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy. [PDF]

PLoS ONE, 2016
Congenital muscular dystrophy with laminin α2 chain-deficiency, also known as MDC1A, is a severe neuromuscular disorder for which there is no cure. Patients with complete laminin α2 chain-deficiency typically have an early onset disease with a more ...
Zandra Körner, Madeleine Durbeej
doaj   +1 more source

Merosin-negative congenital muscular dystrophy: Report of five cases

Journal of Pediatric Neurosciences, 2015
Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2. Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A.
Faruk Incecik, Ozlem M Herguner, Serdar Ceylaner, Sakir Altunbasak   +3 more
doaj   +1 more source

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

Frontiers in Neurology, 2019
Laminin-211 deficiency leads to the most common form of congenital muscular dystrophy in childhood, MDC1A. The clinical picture is characterized by severe muscle weakness, brain abnormalities and delayed motor milestones defining MDC1A as one of the most
Heike Kölbel, Denisa Hathazi, Denisa Hathazi, Matthew Jennings, Rita Horvath, Andreas Roos, Andreas Roos, Ulrike Schara   +7 more
doaj   +1 more source

Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy. [PDF]

PLoS ONE, 2018
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy.
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten   +8 more
doaj   +1 more source

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Annals of Clinical and Translational Neurology, Volume 7, Issue 10, Page 1870-1882, October 2020., 2020
Abstract Objective To characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering. Methods We conducted a retrospective, single‐center, cross‐sectional and longitudinal study on 46 LAMA2‐RD pediatric patients (37 ...
Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy   +6 more
wiley   +1 more source

The congenital muscular dystrophies. [PDF]

Ann Child Neurol Soc
Abstract 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.
europepmc   +2 more sources

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin) [PDF]

European Journal of Human Genetics, 2002
Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the alpha2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and ...
Valérie, Allamand, Pascale, Guicheney
openaire   +2 more sources

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, Jianxin Tan, Dingyuan Ma, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu   +8 more
doaj   +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