Results 31 to 40 of about 841 (164)

Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T2 in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases

NMR in Biomedicine, Volume 35, Issue 12, December 2022., 2022
Quantification errors can occur when a simple mean or median value analysis of the MR biomarker water T2 (T2w) is performed. Because of the two opposite effects that influence T2w in a single voxel—(i) a pathophysiologically increased water mobility (e.g., in edematous changes) leading to T2w elevation, and (ii) a dependency of T2w on the proton ...
Sarah Schlaeger, Dominik Weidlich, Agnes Zoffl, Edoardo Aitala Becherucci, Elisabeth Kottmaier, Federica Montagnese, Marcus Deschauer, Benedikt Schoser, Claus Zimmer, Thomas Baum, Dimitrios C. Karampinos, Jan S. Kirschke   +11 more
wiley   +1 more source

A rare case of late‐onset limb‐girdle muscular dystrophy: Calpainopathy

AGING MEDICINE, Volume 5, Issue 3, Page 237-240, September 2022., 2022
Limb‐girdle muscular dystrophy is a genetic disorder usually presenting in younger age patients. This case report presents a case of late‐onset limb‐girdle muscular dystrophy type R1 (Calpainopathy) in a 65 year old patient.
Bhawana Painkra, Richa Mallick, Sumanta Das, Pramod Kumar, Prasun Chatterjee   +4 more
wiley   +1 more source

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers

European Journal of Neurology, Volume 28, Issue 2, Page 647-659, February 2021., 2021
Rhabdomyolysis events are provoked by exposure to external triggers, possibly in combination with an increased genetic susceptibility. Anoxia was the most frequently reported external trigger (40%). A subset of 193 patients (14.8%) were clinically suspected of an underlying genetic disorder. A total of 22 genes with pathogenic variants were identified,
N. Kruijt, L. R. van den Bersselaar, E. J. Kamsteeg, W. Verbeeck, M. M. J. Snoeck, D. S. Everaerd, W. F. Abdo, D. R. M. Jansen, C. E. Erasmus, H. Jungbluth, N. C. Voermans   +10 more
wiley   +1 more source

Dominant LGMD2A: alternative diagnosis or hidden digenism? [PDF]

Brain, 2016
Sir, We read with great interest the work recently published in Brain (Vissing et al. , 2016), in which the findings on limb girdle muscular dystrophy families from the UK, Denmark and Sweden are described. The cases showed a segregation pattern compatible with a dominant transmission.
Amets, Sáenz, Adolfo, López de Munain
openaire   +2 more sources

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations

Frontiers in Cell and Developmental Biology, 2022
LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function.
Jaione Lasa-Elgarresta, Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Laura Mosqueira-Martín, Klaudia González-Imaz, Pablo Marco-Moreno, Gorka Gerenu, Gorka Gerenu, Gorka Gerenu, Kamel Mamchaoui, Vincent Mouly, Adolfo López de Munain, Adolfo López de Munain, Adolfo López de Munain, Ainara Vallejo-Illarramendi, Ainara Vallejo-Illarramendi, Ainara Vallejo-Illarramendi   +16 more
doaj   +1 more source

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types

Frontiers in Neurology, 2021
We present a patient who had two allogeneic bone marrow transplantations for acute lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of other symptoms of graft-vs.-host disease (GVHD).
Kristina Martens, Jamie Leckie, Daniel Fok, Robyn A. Wells, Sameer Chhibber, Gerald Pfeffer, Gerald Pfeffer   +6 more
doaj   +1 more source

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Annals of Indian Academy of Neurology, 2016
Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis.
Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav   +4 more
doaj   +1 more source

Gene expression profiling in limb-girdle muscular dystrophy 2A.

PLoS ONE, 2008
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in muscular cells, but little is known about its functions or in vivo substrates.
Amets Sáenz, Margarita Azpitarte, Rubén Armañanzas, France Leturcq, Ainhoa Alzualde, Iñaki Inza, Federico García-Bragado, Gaspar De la Herran, Julián Corcuera, Ana Cabello, Carmen Navarro, Carolina De la Torre, Eduard Gallardo, Isabel Illa, Adolfo López de Munain   +14 more
doaj   +1 more source

Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan

Pediatrics and Neonatology, 2015
The autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles.
Chien-Hua Wang, Wen-Chen Liang, Narihiro Minami, Ichizo Nishino, Yuh-Jyh Jong   +4 more
doaj   +1 more source

Caveolin‐3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function

Journal of Cachexia, Sarcopenia and Muscle, Volume 11, Issue 3, Page 838-858, June 2020., 2020
Abstract Background Caveolin‐3 (Cav3) is the principal structural component of caveolae in skeletal muscle. Dominant pathogenic mutations in the Cav3 gene, such as the Limb Girdle Muscular Dystrophy‐1C (LGMD1C) P104L mutation, result in substantial loss of Cav3 and myopathic changes characterized by muscle weakness and wasting.
Dinesh S. Shah, Raid B. Nisr, Clare Stretton, Gabriela Krasteva‐Christ, Harinder S. Hundal   +4 more
wiley   +1 more source