Results 41 to 50 of about 690 (122)

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy

Haseki Tıp Bülteni, 2020
We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

Stem Cell Research & Therapy, 2020
Background Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders characterized by muscle weakness. The two most prevalent forms of CMD, collagen VI-related myopathies (COL6RM) and laminin α2
Vitali Alexeev, Jacquelyn Olavarria, Paolo Bonaldo, Luciano Merlini, Olga Igoucheva   +4 more
doaj   +1 more source

Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A)

Journal of Neuromuscular Diseases, 2015
Background: Merosin-deficient congenital muscular dystrophy (MDC1A) is caused by a loss of Laminin-α2. Secondary manifestations include failed regeneration, inflammation, and fibrosis; however, specific pathomechanisms remain unknown. Objectives: Using the LAMA2 DyW (DyW) mouse model of MDC1A,
Anthony, Accorsi, Thomas, Mehuron, Ajay, Kumar, Younghwa, Rhee, Mahasweta, Girgenrath   +4 more
openaire   +3 more sources

LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

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.
Stefano Carlo Previtali, Stefano Carlo Previtali, Alberto Andrea Zambon   +2 more
doaj   +1 more source

Treating pediatric neuromuscular disorders: The future is now

American Journal of Medical Genetics Part A, Volume 176, Issue 4, Page 804-841, April 2018., 2018
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review.
James J. Dowling, Hernan D. Gonorazky, Ronald D. Cohn, Craig Campbell   +3 more
wiley   +1 more source

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing

Frontiers in Pharmacology, 2019
Background: Muscular dystrophy (MD) includes multiple types, of which dystrophinopathies caused by dystrophin (DMD) mutations are the most common types in children. An accurate identification of the causative mutation at the genomic level is critical for
Dong Wang, Min Gao, Kaihui Zhang, Ruifeng Jin, Yuqiang Lv, Yong Liu, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu   +9 more
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Biological Role of Dystroglycan in Schwann Cell Function and Its Implications in Peripheral Nervous System Diseases

BioMed Research International, Volume 2010, Issue 1, 2010., 2010
Dystroglycan is a central component of the dystrophin‐glycoprotein complex (DGC) that links extracellular matrix with cytoskeleton, expressed in a variety of fetal and adult tissues. Dystroglycan plays diverse roles in development and homeostasis including basement membrane formation, epithelial morphogenesis, membrane stability, cell polarization, and
Toshihiro Masaki, Kiichiro Matsumura, Chung-Liang Chien   +2 more
wiley   +1 more source

Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy. [PDF]

PLoS ONE, 2013
Congenital muscular dystrophy is a distinct group of diseases presenting with weakness in infancy or childhood and no current therapy. One form, MDC1A, is the result of laminin alpha-2 deficiency and results in significant weakness, respiratory ...
Qing Yu, Arpana Sali, Jack Van der Meulen, Brittany K Creeden, Heather Gordish-Dressman, Anne Rutkowski, Sree Rayavarapu, Kitipong Uaesoontrachoon, Tony Huynh, Kanneboyina Nagaraju, Christopher F Spurney   +10 more
doaj   +1 more source

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

BMC Neurology, 2021
Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the
Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans   +21 more
doaj   +1 more source