Results 11 to 20 of about 841 (164)

Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. [PDF]

PLoS ONE, 2014
Calpain-3 deficiency causes oxidative and nitrosative stress-induced damage in skeletal muscle of LGMD2A patients, but mitochondrial respiratory chain function and anti-oxidant levels have not been systematically assessed in this clinical population ...
Mats I Nilsson, Lauren G Macneil, Yu Kitaoka, Fatimah Alqarni, Rahul Suri, Mahmood Akhtar, Maria E Haikalis, Pavneet Dhaliwal, Munim Saeed, Mark A Tarnopolsky   +9 more
doaj   +5 more sources

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
core   +7 more sources

LGMD2A gaixotasunaren diagnostiko molekularra [PDF]

EKAIA Euskal Herriko Unibertsitateko Zientzi eta Teknologi Aldizkaria, 2016
2A motako gerrietako muskulu-distrofia (LGMD2A) CAPN3 geneko mutazioen ondorio den gaixotasun autosomiko azpirakorra da. CAPN3 geneak muskulu eskeletikoan adierazten den kalpaina 3 proteina kodetzen du. Ikerlan honetan, LGMD2A gaixoen diagnostiko molekularra egin da eta MLPA erabili da berrordenatze posibleak identifikatzeko.
Jaka, Oihane
openaire   +4 more sources

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region [PDF]

Italian Journal of Pediatrics
Background Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with ...
Duygu Güner Özcanyüz, Gülen GüL Mert, Neslihan Özcan, Serap Bilge, Faruk İncecik, Suzan Zorludemir, Sevcan Tuğ Bozdoğan, Mihriban Özlem Hergüner   +7 more
doaj   +2 more sources

Mitochondrial dysfunction and consequences in calpain-3-deficient muscle [PDF]

Skeletal Muscle, 2020
Background Nonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A).
Vanessa E. Jahnke, Jennifer M. Peterson, Jack H. Van Der Meulen, Jessica Boehler, Kitipong Uaesoontrachoon, Helen K. Johnston, Aurelia Defour, Aditi Phadke, Qing Yu, Jyoti K. Jaiswal, Kanneboyina Nagaraju   +10 more
doaj   +2 more sources

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations [PDF]

Journal of Neuropathology & Experimental Neurology, 2018
Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. LGMD2A is caused by mutations in the calpain-3 gene (CAPN3) that encodes a Ca2+-dependent cysteine protease predominantly expressed in the skeletal muscle.
Riyad, El-Khoury, Sahar, Traboulsi, Tarek, Hamad, Maher, Lamaa, Raja, Sawaya, Mamdouha, Ahdab-Barmada   +5 more
openaire   +3 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   +2 more sources

A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy

Clinical Neurology, 2008
We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Narihiro Minami, Yukiko K Hayashi, Ichizo Nishino   +2 more
exaly   +3 more sources

Limb-girdle muscular dystrophy type 2A in Brazilian children [PDF]

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   +2 more sources

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene [PDF]

Brain, 2005
We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene.
Saenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camano, P., Urtasun, M., Vilchez, J., Gutierrez-Rivas, E., Emparanza, J., Merlini, L., Paisan, C., Goicoechea, M., Blazquez, L., Eymard, B., Lochmüller, H., Walter, M., Bönnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Marti-Masso, J. F., de Munain, A. L.   +23 more
openaire   +4 more sources