Results 131 to 140 of about 713 (148)

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
openaire   +2 more sources

[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
openaire   +1 more source

Mutation and haplotype analysis of calpainopathy (LGMD 2A) in Croatia

2005
INTRODUCTION.Calpainopathy or limb girdle muscular dystrophy type 2A (LGMD 2A ; OMIM 253600) is an autosomal recessive muscular disorder characterized by symmetrical and selective atrophy of proximal limb muscles. It is caused by mutations in CAPN3 gene, coding for calpain 3.
Milić, Astrid, Canki-Klain, Nina
openaire   +1 more source

Calpainopathy as differential diagnosis of idiopathic hyperCKemia

Neuropediatrics, 2010
M Baz Bartels, S Vlaho, S Dittrich, J Althaus, S Geb, M Laufs, F Hoche, M Kieslich   +7 more
openaire   +1 more source

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

Neuropathology and Applied Neurobiology, 2021
Cristina Dominguez-Gonzalez, Montse Olive, Fabiola Mavillard   +2 more
exaly  

G.P.10.07 Differential expression of microRNAs in calpainopathies

Neuromuscular Disorders, 2009
A.M. Aguennouz, M.O. Musumesci, R.C. Rodolico, L.N. Lanzano, G.A. Garufi, D.P.M. De Pasquale, V.G. Vita, T.A. Toscano   +7 more
openaire   +1 more source

Clinical and pathological features in 15 Chinese patients with calpainopathy

Muscle and Nerve, 2011
Sushan Luo
exaly  

13 Calpainopathies: A review with special reference to calpainopathies in the Indian Agarwal community

2014
openaire   +1 more source

Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance

Muscle and Nerve, 2015
Heinz Reichmann, Uwe Speiser, Ulrike Reuner   +2 more
exaly  

Calpainopathy

Journal of Molecular Neuroscience, 2003
Flavia de Paula, Mariz Vainzof, Helga C.A. Silva   +2 more
exaly