Results 81 to 90 of about 841 (164)

Histopathologische Untersuchungen bei hereditären Muskeldystrophien mit einem primären Calpain3-Defekt (Gliedergürtelmuskeldystrophie, LGMD2A)

, 2022
Es erfolgten immunhistochemische Untersuchungen bei LGMD2A-Patienten auf Veränderungen von Titin, von Triadenproteinen (AldoA und RyR1) und immunelektronenmikroskopische Untersuchungen im Hinblick auf Veränderungen der Chaperone im Zusammenhang mit CAPN3-
Böhme, Pierre (Dr. med.)
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Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

, 1998
p94 (calpain3), a muscle-specific member of the calpain family, has been shown to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A), a form of autosomal recessive and progressive neuromuscular disorder.
Ishiura, S., Saido, T. C., Richard, I., Shimada, H., Suzuki, K., Sorimachi, H., Ono, Y., Beckmann, J. S.   +7 more
core   +1 more source

FRZB gene expression regulation in vitro to restore muscle fibre homeostasis in limb-girdle muscular dystrophy type 2A (LGMD2A) and Frzb-/- murine model muscle analysis. [PDF]

, 2018
282 p.Este trabajo se centra en el estudio de la distrofia muscular de cinturas tipo 2A (LGMD2A) causada por mutaciones en el gen de la calpaina 3. El trabajo ha sido enfocado en el estudio a nivel celular y molecular de esta enfermedad para un mejor ...
Casas Fraile, Leire
core   +2 more sources

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy. [PDF]

Acta Myol, 2022
Diella E, LoMauro A, Delle Fave M, Cima R, D'Angelo MG.   +4 more
europepmc   +1 more source

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

, 2008
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is generally recognized as the most prevalent form of recessive LGMD and is caused by mutations in the CAPN3 gene.
Duno, M., Vissing, J., Sveen, M.L., Schwartz, M.   +3 more
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Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: A morphometric and molecular study

, 2013
Aims: The peculiar clinical features and the pathogenic mechanism related to calpain-3 deficiency (impaired sarcomere remodelling) suggest that the ubiquitin-proteasome degradation pathway may have a crucial role in Limb Girdle Muscular Dystrophy 2A ...
Nascimbeni A. C., Angelini C., Fanin M.
core   +1 more source

Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

, 2008
Udgivelsesdato: 2008-SepOBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD).
Thune, Jens Jakob, Vissing, John, Sveen, Marie-Louise, Køber, Lars   +3 more
core   +1 more source

Ανίχνευση μεταλλάξεων στο γονίδιο CAPN3 σε ασθενείς με Ζωνιαία Μυϊκή Δυστροφία τύπου 2A (LGMD2A)

, 2014
Εισαγωγή: Οι Ζωνιαίες Μυϊκές Δυστροφίες (Limb Girdle Muscular Dytrophies, LGMDs) ορίζονται ως μια ετερογενής ομάδα γενετικών νοσημάτων με προοδευτικά εξελισσόμενη αδυναμία και εν συνεχεία ατροφία των μυών κυρίως της ωμικής και πυελικής ζώνης.
Σβίγγου Μαρία
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Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation. [PDF]

Mol Ther Nucleic Acids, 2023
Müthel S, Marg A, Ignak B, Kieshauer J, Escobar H, Stadelmann C, Spuler S.   +6 more
europepmc   +1 more source

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A

, 2007
Background: Limb girdle muscular dystrophy type 2A (LGMD2A) is characterised by wide variability in clinical features and rate of progression. Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense ...
SPINAZZI M, NARDETTO L, NASCIMBENI AC, FANIN M, TASCA, ELISABETTA, ANGELINI, CORRADO, PADOAN R   +6 more
core   +1 more source