Results 21 to 30 of about 631 (138)

Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.

Croatian medical journal, 2005
To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia.Mutation analysis included allele-specific polymerase chain reaction (PCR) or combination of PCR and restriction fragment length polymorphisms (RFLP ...
Milić, Astrid, Canki-Klain, Nina
  +7 more sources

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023
Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
wiley   +1 more source

The role of microRNAs in muscle wasting and recovery during critical illness: a systematic review

JCSM Rapid Communications, Volume 6, Issue 2, Page 68-80, July/December 2023., 2023
Abstract Introduction Critical illness associated with intensive care unit (ICU) admission often results in persistent skeletal muscle wasting and may lead to frailty in older and patients with multi‐morbidity. Early recognition of patients at high‐risk of long‐term complications could provide opportunities to minimize the impact of critical illness ...
Maria Borja‐Gonzalez, Sarah Coyne, Sarah Fagan, Jose C. Casas‐Martinez, Anthony J. Sannicandro, Bairbre McNicholas, Kevin O'Connell, John G. Laffey, Rónán O'Caoimh, Brian McDonagh, Katarzyna Goljanek‐Whysall   +10 more
wiley   +1 more source

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

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To explore the clinical manifestations, laboratory examination, imaging, neurophysiological, genetic test and family data of 2 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) during the preclinical stage, and to provide clinical ...
Huan LI, Yu-ling ZHU, Jing LI, Liang WANG, Ruo-jie HE, Jin-fu LIN, Cheng ZHANG   +6 more
doaj   +1 more source

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes [PDF]

Journal of Medical Genetics, 2005
Background: The limb girdle muscular dystrophies (LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause
PILUSO, Giulio, POLITANO, Luisa, AURINO S, FANIN M, RICCI E, VENTRIGLIA VM, BELSITO, Angela, TOTARO A, SACCONE V, TOPALOGLU H, NASCIMBENI AC, FULIZIO L, BROCCOLINI A, CANKI KLAIN N, COMI LI, NIGRO, Gerardo, ANGELINI C, NIGRO, Vincenzo   +17 more
openaire   +5 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