Results 141 to 150 of about 841 (164)

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

Genetic Testing and Molecular Biomarkers, 2015
Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mutation in LGMD2A.
Małgorzata, Dorobek, Barbara, Ryniewicz, Dagmara, Kabzińska, Anna, Fidziańska, Maria, Styczyńska, Irena, Hausmanowa-Petrusewicz   +5 more
openaire   +2 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
openaire   +2 more sources

Limb-girdle Muscular Dystrophy (LGMD2A)

2017
Clinical History Image Findings Discussion Find Diagnosis Differential ...
openaire   +1 more source

[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

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

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

American Journal of Medical Genetics, 1999
The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders of progressive weakness of the pelvic and shoulder girdle musculature. The clinical course is characterized by great variability, ranging from severe forms with onset in the first decade and rapid progression resembling clinically Xp21 Duchenne ...
M R, Passos-Bueno, M, Vainzof, E S, Moreira, M, Zatz   +3 more
openaire   +2 more sources

Survey of LGMD2A mutations

Neuromuscular Disorders, 1996
I. Richard, L. Brenguier, B. Bady, M. Fardeau, C.A. Garcia, C.E. Jackson, D.M. Kurnit, G. Lefranc, C. Legums, J. Loiselet, L. Merlinil, A. Nivelon, E. Ollagnon, J.S. Beckmann   +13 more
openaire   +1 more source

Mutation spectrum of CAPN3 gene in LGMD2A patients in Croatia

2002
Background. Our previous results have shown that the most frequent mutation in CANP3 gene in patients from Croatia is the 550delA mutation, while the Y537X mutation was found only in 1 family. We report the results of the screening of CANP3 gene on 27 families, 8 of them never investigated, in which one or both mutations have been identified. Objective.
Milić, Astrid, Piluso, G., Ventriglia, V., DeAmico, F., Kovač, Biserka, Trlaja, Anuška, Mitrović, Zoran, Zurak, Niko, Politano, L., Canki-Klain, Nina   +9 more
openaire   +1 more source

Clinical variability in siblings with calpainopathy (LGMD2A)

Neuromuscular Disorders, 2007
Kirschner, J., Schessl, J., Walter, M., Schreiber, G., Muelller-Reible, C., Schara, Ulrike, Boennemann, C., Korinthenberg, R.   +7 more
openaire   +3 more sources

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Journal of clinical pathology, 2003
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine kinase concentrations.
M, Vainzof, F, de Paula, A M, Tsanaclis, M, Zatz   +3 more
openaire   +1 more source