Results 101 to 110 of about 466 (135)

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
Flavia De Paula, Mariz Vainzof, Helga Silva   +2 more
exaly   +3 more sources

[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
openaire   +2 more sources

Molecular genetic study of Calpainopathy in Iran

Gene, 2018
Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+-dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming ...
Marzieh Mojbafan, Ali Khajeh, Haleh Habibi, Hamideh Bagherian, Sirous Zeinali   +4 more
openaire   +2 more sources

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

Neurological Research, 2010
Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles. In order to describe the peculiar clinical features of LGMD2A (calpainopathy) and LGMD2B (dysferlinopathy), the most frequent forms of LGMD in ...
ANGELINI, CORRADO, NARDETTO L, BORSATO, CARLO, PADOAN R, FANIN M, NASCIMBENI AC, TASCA E.   +6 more
openaire   +2 more sources

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
openaire   +2 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
openaire   +2 more sources

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, Anna Oommen
exaly   +3 more sources

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

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 ...
Heinz Reichmann
exaly   +3 more sources