Results 31 to 40 of about 631 (138)

Limb-girdle muscular dystrophy type 2A in Brazilian children

Arquivos de Neuro-Psiquiatria, 2015
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI ...
Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed   +4 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

Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey

Molecular Genetics and Metabolism Reports, 2014
Background: The risk of osteoporosis is known in myopathies requiring long-term steroid treatment and Pompe disease, but not in other hereditary myopathies or sporadic inclusion body myositis (sIBM).
F. Danckworth, N. Karabul, A. Posa, F. Hanisch   +3 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

Neurotrophins, cytokines, oxidative parameters and funcionality in Progressive Muscular Dystrophies

Anais da Academia Brasileira de Ciências, 2015
We investigated the levels of brain derived-neurotrophic factor (BDNF), cytokines and oxidative parameters in serum and tried to correlate them with the age and functionality of patients with Progressive Muscle Dystrophies (PMD).
CLARISSA M. COMIM, GISIANE B. MATHIA, ANDREZA HOEPERS, LISIANE TUON, FLÁVIO KAPCZINSKI, FELIPE DAL-PIZZOL, JOÃO QUEVEDO, MARIA I. ROSA   +7 more
doaj   +1 more source

Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression [PDF]

The American Journal of Pathology, 2003
The diagnosis of limb girdle muscular dystrophy (LGMD) type 2A (due to mutations in the gene encoding for calpain-3) is currently based on protein analysis, but mutant patients with normal protein expression have also been identified. In this study we investigated 150 LGMD patients with normal calpain-3 protein expression, identified gene mutations by ...
FANIN, MARINA, NASCIMBENI, ANNA CHIARA, FULIZIO, LUIGI, TREVISAN, CARLO PIETRO, MEZNARIC PETRUSA M, ANGELINI, CORRADO   +5 more
openaire   +3 more sources

Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

European Journal of Neurology, Volume 27, Issue 1, Page 51-61, January 2020., 2020
Background and purpose Next‐generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield.
M. Krenn, M. Tomschik, J. Rath, H. Cetin, A. Grisold, G. Zulehner, I. Milenkovic, E. Stogmann, A. Zimprich, T. M. Strom, T. Meitinger, M. Wagner, F. Zimprich   +12 more
wiley   +1 more source