Results 1 to 10 of about 631 (138)

CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells [PDF]

Stem Cells International, 2023
Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles.
Lampros Mavrommatis, Abdul Zaben, Urs Kindler, Marie-Cécile Kienitz, Julienne Dietz, Hyun-Woo Jeong, Pierre Böhme, Beate Brand-Saberi, Matthias Vorgerd, Holm Zaehres   +9 more
doaj   +3 more sources

Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1 [PDF]

Molecular Therapy - Methods and Clinical Development, 2021
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk, Burçak Ozes, Jerry Mendell   +2 more
exaly   +5 more sources

Genetic Counseling and NGS Screening for Recessive LGMD2A Families [PDF]

High-Throughput, 2020
Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of ...
John L Williams, Serenella Servidei, Giulietta Minozzi   +2 more
exaly   +6 more sources

Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Limb–girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gene defect.
Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph, Felix M. Heidrich   +8 more
doaj   +2 more sources

Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels [PDF]

Frontiers in Cell and Developmental Biology, 2022
In vitro models of patient-derived muscle allow for more efficient development of genetic medicines for the muscular dystrophies, which often present mutation-specific pathologies.
Florian Barthélémy, Florian Barthélémy, Jeffrey W. Santoso, Laura Rabichow, Laura Rabichow, Rongcheng Jin, Isaiah Little, Isaiah Little, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Megan L. McCain, Megan L. McCain, M. Carrie Miceli, M. Carrie Miceli   +14 more
doaj   +2 more sources

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies. [PDF]

J Cachexia Sarcopenia Muscle, 2023
Abstract Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies and (2) to investigate the mechanisms by which decreased RyR1 protein triggers muscular ...
Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N.   +10 more
europepmc   +2 more sources

Quantitative Muscle MRI in Patients with Neuromuscular Diseases—Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region [PDF]

Diagnostics, 2021
(1) Background and Purpose: The skeletal muscles of patients suffering from neuromuscular diseases (NMD) are affected by atrophy, hypertrophy, fatty infiltration, and edematous changes.
Sarah Schlaeger, Nico Sollmann, Agnes Zoffl, Edoardo Aitala Becherucci, Dominik Weidlich, Elisabeth Kottmaier, Isabelle Riederer, Tobias Greve, Federica Montagnese, Marcus Deschauer, Benedikt Schoser, Claus Zimmer, Dimitrios C. Karampinos, Jan S. Kirschke, Thomas Baum   +14 more
doaj   +2 more sources

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A [PDF]

Frontiers in Genetics
Limb-girdle muscular dystrophy type 2A (LGMD R1 Calpain 3-Related, LGMD2A/R1), an autosomal recessive disorder, is characterized by progressive muscle weakness with a prominent presentation in the proximal limb girdle muscles.
Wanjun Feng, Yanyan Cao, Ruolin Ren, Xiaohui Yang, Chunyan Cao, Hongwei Jiang, Ganqin Du   +6 more
doaj   +2 more sources

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis.
Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang   +11 more
doaj   +2 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +2 more sources