Results 131 to 140 of about 607 (153)

[Calpainopathies: state of the art and therapeutic perspectives].

Medecine sciences : M/S, 2021
Calpainopathies are inherited limb-girdle muscular dystrophies, most often following an autosomal recessive (AR) transmission. Autosomal dominant (AD) forms with less severe presentation are increasingly reported. Calpainopathies with autosomal recessive (AR) mutations of the calpain3 gene (CAPN3) are associated with limb girdle muscular dystrophy type
Edoardo, Malfatti, Isabelle, Richard
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Oxidative Stress, NF-κB and the Ubiquitin Proteasomal Pathway in the Pathology of Calpainopathy

Neurochemical Research, 2013
The neuromuscular disorder, calpainopathy (LGMD 2A), is a major muscular dystrophy classified under limb girdle muscular dystrophies. Genetic mutations of the enzyme calpain 3 cause LGMD 2A. Calpainopathy is phenotypically observed as progressive muscle wasting and weakness.
Mathew Alexander
exaly   +3 more sources

Clinical and pathological features in 15 Chinese patients with calpainopathy

Muscle & Nerve, 2010
AbstractBackground: Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium‐activated, neutral protease (calpain‐3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features.
Su-Shan, Luo, Jian-Ying, Xi, Jia-Hong, Lu, Chong-Bo, Zhao, Wen-Hua, Zhu, Jie, Lin, Yin, Wang, Hui-Min, Ren, Bo, Yin, Urtizberea J, Andoni   +9 more
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A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

Neurology, 2005
The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote for CAPN3 mutations (calpainopathy) and the others have a single CAPN3 mutation. Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome).
A, Starling, D, Schlesinger, F, Kok, M Rita, Passos-Bueno, M, Vainzof, M, Zatz   +5 more
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Diamond Sign in Calpainopathy

JAMA Neurology
This case report describes the appearance of autosomal recessive limb-girdle muscular dystrophy in a 30-year-old man with lower limb weakness, asymmetric atrophy of thigh muscles, and wasting of calf muscles.
Amlan Kusum, Datta, Adreesh, Mukherjee, Atanu, Biswas   +2 more
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Late-Onset Axial Myopathy and Camptocormia in a Calpainopathy Carrier

Journal of Clinical Neuromuscular Disease, 2012
Abstract Camptocormia is a debilitating gait disorder characterized by the hyperflexion of the thoracolumbar spine during the upright position. Its etiologies are heterogenous, including parkinsonism and various neuromuscular disorders.
Teerin, Liewluck, Brent P, Goodman
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Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance

Muscle and Nerve, 2015
ABSTRACTIntroductionCardiac dysfunction occurs in several forms of limb girdle muscular dystrophy (LGMD). The aim of this study was to investigate cardiac involvement in calpainopathy (LGMD2A).MethodsCardiovascular evaluation was performed in 10 patients with genetically verified LGMD2A by echocardiography, 3 Tesla ‐ cardiovascular magnetic resonance ...
Jochen Schaefer, Ulrike Reuner, Steffen Schoen   +2 more
exaly   +3 more sources

Phenotypic variability in siblings with calpainopathy (LGMD2A).

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2008
Calpainopathy is an autosomal-recessive limb girdle muscular dystrophy (LGMD2A) characterized by selective atrophy and weakness of proximal limb girdle muscles. The clinical phenotype of the disease is highly variable inter-familial, but little is known about intra-familial variability.
Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J   +8 more
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Clinical, genetic and epidemiological study of calpainopathy (LGMD2A) in Croatia

Neurologia Croatica, 2000
Autosomal recessive limb-girdle muscular dystrophies (LGMD2) form a group of muscle diseases presenting great clinical and genetic heterogeneity making an etiologic diagnosis very difficult and clinically in majority of cases impossible. LGMD2A, (MIM 253600) is an autosomal recessive disorder characterized mainly by symetrical and selective atrophy of ...
Canki-Klain, Nina, Milić, Astrid, Leturcq, France, Zurak, Nikša   +3 more
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[A clinicopathological investigation of two autopsy cases of calpainopathy (LGMD2A)].

Brain and nerve = Shinkei kenkyu no shinpo, 2014
In this study, we compared the clinicopathological findings of two autopsy cases of patients with calpainopathy (LGMD2A) from different families. The patient in case 1 was a 72-year-old man with a history of type 2 diabetes mellitus. He exhibited recent memory impairments from the age of 70. ECG revealed an incomplete right bundle branch block.
Shuji, Hashiguchi, Katsuhito, Adachi, Toshio, Inui, Yoshiharu, Arii, Setsuko, Kashiwagi, Miho, Saito, Noriko, Kagawa, Hisaomi, Kawai   +7 more
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