Results 91 to 100 of about 466 (135)

Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report. [PDF]

Cureus
Nandanwar SP, Udhoji SP, Raghuveer R.
europepmc   +1 more source

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]

BMJ Case Rep
Benn KW, Bhalala OG, Day TJ, French CR.
europepmc   +1 more source

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation. [PDF]

Ann Indian Acad Neurol
Madduluri B, Jabeen SA, Barathidasan G, Shaik RS, Uppin MS.   +4 more
europepmc   +1 more source

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis. [PDF]

Front Genet
Bevilacqua JA, Al-Salti AM, Al Madani A, Alves da Fonseca A, Durmus H, Chai J, Alshehri A, Ribeiro MG, Sgobbi P, Nikitin SS, Vargas S, Furtado A, Thibault N, Araujo R, Daba N.   +14 more
europepmc   +1 more source

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach [PDF]

Neuromuscular Disorders, 2001
Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle involvement. Eleven patients had a muscle biopsy with deficiency of calpain 3 on western blotting. The other
Robert Pogue, L V B Anderson, A Pyle
exaly   +4 more sources

Calpainopathy—A Survey of Mutations and Polymorphisms [PDF]

American Journal of Human Genetics, 1999
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family.
Amets Saenz, Isabelle Richard, Robert Pogue   +2 more
exaly   +6 more sources

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Molecular and genetic features of calpainopathy

Genes & Cells, 2022
Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,00042,700 individuals. In the Russian Federation, there is an insufficient number of studies, which researched prevalence of calpainopathy among patients with limb-girdle muscular dystrophy, but according to available data ...
L. A. Mkrtchyan, Y. S. Slesarenko, I. A. Yakovlev, S. N. Bardakov, R. V. Deev   +4 more
openaire   +1 more source

Experiences in the molecular genetic and histopathological evaluation of calpainopathies

neurogenetics, 2022
Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported.
Berk Ozyilmaz, Ozgur Kirbiyik, Taha R. Ozdemir, Ozge Kaya Ozer, Yasar B. Kutbay, Kadri M. Erdogan, Merve Saka Guvenc, Şener Arıkan, Tuba Sozen Turk, Murat Yıldırım Kale, Irem Fatma Uludag, Figen Baydan, Filiz Sertpoyraz, Pinar Gencpinar, Gulden Diniz   +14 more
openaire   +2 more sources

Calpainopathy and eosinophilic myositis

Annals of Neurology, 2006
, Anthony Amato
exaly   +2 more sources

Calpainopathy presenting as foot drop in a 41 year old

Neuromuscular Disorders, 2010
Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years.
Rita Barresi, S R Hammans, M Sampson
exaly   +4 more sources