Results 91 to 100 of about 841 (164)

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. [PDF]

Cureus, 2022
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +1 more source

Análise de proteínas musculares por Western blot em doentes com Distrofia Muscular das Cinturas tipo 2A (LGMD2A)

, 2011
Introdução: As Distrofias Musculares são um grupo de doenças musculares hereditárias, genotipicamente e fenotipicamente heterogéneo, envolvendo normalmente o músculo esquelético (1).
Maia, Nuno, Vieira, Emília, Oliveira, Marcia E., Santos, Rosário   +3 more
core  

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

, 2015
Limb girdle muscular dystrophy type 2A (LGMD2A) is the most frequent form of LGMD worldwide. Comprehensive clinical assessment and laboratory testing is essential for diagnosis of LGMD2A. Muscle immunoblot analysis of calpain-3 is the most useful tool to
Angelini C., Fanin M.
core   +1 more source

NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

, 2008
International audienceLimb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting.
Raynaud, Fabrice, Daniele, N., Raynaud, F., Bourg, Nathalie, Bartoli, Marc, Pasquier, Marie-Anne, Baghdiguian, S., Lajmanovich, A., Benayoun, Beatrice, Gicquel, Evelyne, Lochmuller, H., Bartoli, Manon, Baghdiguian, Stephen, Richard, Isabelle, Lefranc, Gérard, Suel, L., Suel, Laurence, Pasquier, Marie‐anne, Danièle, Nathalie, Gicquel, E., Lajmanovich, Alicia, Benayoun, B., Lefranc, G., Pasquier, Ma, Bourg, N., Lochmüller, Hanns, Richard, I.   +26 more
core   +1 more source

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

Immunoblot is currently the preferred laboratory test to assist the diagnosis of limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy). To assess whether immunohistochemistry may offer a reliable alternative screening we used two antibodies, Calp3-2C4
Henderson M, Bushby K, Barresi R, Richards J, Straub V, Charlton R, Hudson J   +6 more
core  

Calpain signaling: from biology to therapeutic opportunities in neurodegenerative disorders. [PDF]

Front Vet Sci, 2023
Metwally E, Al-Abbadi HA, Hussain T, Murtaza G, Abdellatif AM, Ahmed MF.   +5 more
europepmc   +1 more source

Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

, 1995
A gene for a recessive form of limb-girdle muscular dystrophy (LGMD2A) has been localized to chromosome 15. A physical map of the 7-cM candidate 15q15.1-q21.1 region has been constructed by means of a 10-12-Mb continuum of overlapping YAC clones.
Broux, O., Roudaut, C., Jackson, C.E., Fougerousse, F., Brenguier, L., Tischfeld, J.A., Cohen, D., Fardeau, M., Conneally, P.M., Allamand, V., Chiannilkulchai, N., Beckmann, J.S., Pasturaud, P., Bourg, N., Richard, I., Devaud, C., Pereira de Souza, A.   +16 more
core  

Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls. [PDF]

Quant Imaging Med Surg, 2021
Greve T, Burian E, Zoffl A, Feuerriegel G, Schlaeger S, Dieckmeyer M, Sollmann N, Klupp E, Weidlich D, Inhuber S, Löffler M, Montagnese F, Deschauer M, Schoser B, Bublitz S, Zimmer C, Karampinos DC, Kirschke JS, Baum T.   +18 more
europepmc   +1 more source

CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review). [PDF]

Int J Mol Med, 2021
Chen L, Tang F, Gao H, Zhang X, Li X, Xiao D.   +5 more
europepmc   +1 more source

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families. [PDF]

Exp Ther Med, 2021
Zheng J, Xu X, Zhang X, Wang X, Shu J, Cai C.   +5 more
europepmc   +1 more source