Results 121 to 130 of about 713 (148)

Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures

Genes, 2020
Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous
Iván Landires, Jorge I Velez, Oscar M Vidal   +2 more
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[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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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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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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Calpainopathy

, 2010
ANGELINI, CORRADO, FANIN M.
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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
openaire   +2 more sources

Calpainopathy: How Broad Is the Spectrum of Clinical Variability?

Journal of Molecular Neuroscience, 2003
Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with
Alessandra, Starling, Flavia, de Paula, Helga, Silva, Mariz, Vainzof, Mayana, Zatz   +4 more
openaire   +2 more sources

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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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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224 Calpainopathy: CAPN compound heterozygosity in a patient with wilson’s disease

Journal of Neurology, Neurosurgery & Psychiatry, 2019
A 37 year-old nurse of Czech origin presented with a five year history of progressive, symmetrical limb weakness, myalgia and a tendency to walk on her tip-toes. She had difficulty walking upstairs and lifting her baby. She had a background of Wilson’s disease, diagnosed aged 14 on the basis of liver biopsy. Penicillamine-induced myopathy was initially
Charis Wong, Elaine Fletcher, Chiara Marini-Bettolo, Rita Barresi, David P Breen   +4 more
openaire   +1 more source