Results 11 to 20 of about 1,335 (167)

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy [PDF]

Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.
ABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Meifang Zhao, Yuxing Liu, Liangliang Fan, Zhaochuan Liu, Yao Deng, Lihong Tao   +5 more
wiley   +2 more sources

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy [PDF]

Pediatric Investigation, Volume 10, Issue 1, Page 25-37, February 2026.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +2 more sources

UDP‐glucose dehydrogenase variants cause dystroglycanopathy [PDF]

Annals of Clinical and Translational Neurology, Volume 12, Issue 6, Page 1302-1308, June 2025.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +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

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination [PDF]

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +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

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

When proteases reshape barriers: Basement membrane remodelling in development, wound healing and tumour progression [PDF]

The FEBS Journal, Volume 293, Issue 13, Page 3954-3972, July 2026.
Basement membrane (BM) homeostasis relies on a balance between integrity, controlled remodelling and pathological degradation. Increased protease expression beneath the BM, along with reduced levels of endogenous protease inhibitors, drives the transition from a continuous, protective barrier to a discontinuous interface.
Clara Legendre, Guila Dayan, Patricia Rousselle   +2 more
wiley   +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