Results 1 to 10 of about 1,370 (166)

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A [PDF]

European Journal of Translational Myology, 2023
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo   +13 more
doaj   +2 more sources

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

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   +2 more sources

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis [PDF]

Frontiers in Neurology, 2022
BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS ...
Stefanie Meyer, Silke Kaulfuß, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Jens Schmidt, Jens Schmidt, Silke Pauli, Jana Zschüntzsch   +10 more
doaj   +2 more sources

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

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   +2 more sources

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients [PDF]

Acta Neuropathologica Communications
Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the α2 subunit of laminin-211 (merosin).
Veronica Pini, Francesco Catapano, Rosa Bonaccorso, Ben Weisburd, Stefano C. Previtali, Francesco Muntoni   +5 more
doaj   +2 more sources

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy [PDF]

Frontiers in Genetics, 2021
Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue.
P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov   +5 more
doaj   +2 more sources

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients [PDF]

Frontiers in Genetics, 2023
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thanh Van Ta, Thinh Huy Tran, Thinh Huy Tran, Huy-Hoang Nguyen, Huy-Hoang Nguyen   +14 more
doaj   +2 more sources

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants [PDF]

SAGE Open Medical Case Reports
Laminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy.
Azita Tavasoli, Shayan Eghdami, Maryam Kachuei, Saman Rouzbeh   +3 more
doaj   +2 more sources

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy [PDF]

BMC Medical Genomics
LAMA2 encodes the alpha-2 subunit of a protein called Laminin. It consists of three subunits Y; alpha, beta and gamma. Alpha2 subunit from LAMA2 gene along with beta-2 and gamma-2 forms laminin-2 protein.
Parham Nejati, Nafiseh Falsafi, Elham Alimoradi, Teymoor Khosravi, Mohana Kamari, Morteza Oladnabi, Reza Alibakhshi   +6 more
doaj   +2 more sources

A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report

Brazilian Journal of Anesthesiology, 2023
Merosin-deficient muscular dystrophy is caused by an autosomal recessive mutation on laminin-..2 gene characterized by severe progressive muscle weakness associated with neuromuscular scoliosis and restrictive lung disease.
Jorge Pelicano Paulos, Vanessa Artilheiro, Catarina Cruz, Ana Pinto Carneiro   +3 more
doaj   +1 more source