Results 21 to 30 of about 607 (153)

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G [PDF]

Stem Cell Research
Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237 ...
Karina Goluba, Vadims Parfejevs, Anastasija Neimane, Anastasija Tvoronovica, Baiba Lace, Mehrnaz Ghazvini, Inna Inashkina, Una Riekstina   +7 more
doaj   +2 more sources

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Diagnosing myopathy subtypes is challenging due to clinical and genetic heterogeneity. While muscle magnetic resonance imaging (MRI) enables pattern recognition, standardized imaging data from India are lacking.
Shariq Ahmad Shah, Venugopalan Y Vishnu, Leve Joseph Devaranjan Sebastian, Ajay Garg   +3 more
doaj   +2 more sources

Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy

Neuromuscular Disorders, 2017
The aim was to investigate if daily low-dose treatment with recombinant human growth hormone (somatropine) can stabilize or improve muscle strength and walking capability in a patient with dominantly inherited calpainopathy.
Kira Philipsen Prahm, Ulla Feldt-Rasmussen, John Vissing   +2 more
exaly   +2 more sources

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

Human Mutation, 2020
Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy.
John Vissing, Julia R Dahlqvist, Carinne Roudaut   +2 more
exaly   +2 more sources

Eosinophilic myositis in calpainopathy: Could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease?

Neuromuscular Disorders, 2009
PubMedID: 19285864An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After commencement of immunosuppressive therapy
Hulya Gundesli, Tevfik Sabuncu, Pervin Dinçer   +2 more
exaly   +2 more sources

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.
Ozyilmaz, Berk, Ozdemir, Taha R., Ozer, Ozge Kaya, Kirbiyik, Ozgur, Kutbay, Yasar B., Erdogan, Kadri M., Guvenc, Merve Saka   +6 more
core   +3 more sources

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [PDF]

Global Medical Genetics, 2022
Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are ...
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
doaj   +2 more sources

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
Ivan Landires, OSCAR M Vidal, Jorge I Velez   +2 more
exaly   +2 more sources

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +2 more sources

Molecular genetic study of Calpainopathy in Iran

Gene, 2018
Introduction: 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.
Khajeh, A., Mojbafan, M., Zeinali, S., Bagherian, H., Habibi, H.   +4 more
core   +3 more sources