Results 61 to 70 of about 631 (138)

Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia

Journal of Biomedicine and Translational Research, 2017
Background: Limb girdle muscular dystrophy (LGMD) is a neuromuscular abnormality with clinical heterogeneity and various severity, where over 30 subtypes have been identified.
Nydia Rena Benita Sihombing, Nurin Aisyiyah Listyasari, Sultana MH Faradz   +2 more
doaj   +1 more source

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)

Biomolecules, 2015
Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the first enzyme of the hexosamine biosynthetic pathway. It transfers an amino group from glutamine to fructose-6-phosphate to yield glucosamine-6-phosphate, thus providing the precursor for ...
Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell   +6 more
doaj   +1 more source

Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.

PLoS ONE, 2010
BackgroundCalpain 3 (Capn3), also named p94, is a skeletal muscle tissue-specific protein known to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A).
Sante Roperto, Roberta De Tullio, Cinzia Raso, Roberto Stifanese, Valeria Russo, Marco Gaspari, Giuseppe Borzacchiello, Monica Averna, Orlando Paciello, Gianni Cuda, Franco Roperto   +10 more
doaj   +1 more source

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations

Journal of Neuropathology & Experimental Neurology, 2018
Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. LGMD2A is caused by mutations in the calpain-3 gene (CAPN3) that encodes a Ca2+-dependent cysteine protease predominantly expressed in the skeletal muscle.
Riyad, El-Khoury, Sahar, Traboulsi, Tarek, Hamad, Maher, Lamaa, Raja, Sawaya, Mamdouha, Ahdab-Barmada   +5 more
openaire   +2 more sources

Molecular Genetic Analysis of Limb Girdle Muscular Dystrophy 2A (LGMD2A) in two consanguineous Pakistani families

Khyber Medical University Journal, 2016
Objectives: To investigate molecular pathogenesis of the disease and to significantly improve diagnosis and understanding of muscular dystrophy in Pakistani population.
Muhammad Jaseem Khan
doaj  

Identification and characterization of the human StARD9 gene in the LGMD2A-region on chromosome 15q15 by in silico methods

International Journal of Molecular Medicine, 2006
StAR (steroidogenic acute regulatory) proteins and proteins with StAR-related lipid transfer (START) domains are involved in lipid transport and metabolism, signal transduction, and transcriptional regulation. In this present study we characterized the StARD9 gene by bioinformatical methods. The human StARD9 gene (syn. KIAA1300), consisting of 11 exons,
Niels, Halama, Silke A, Grauling-Halama, Dirk, Jäger   +2 more
openaire   +3 more sources

Two autosomal recessive neuromuscular disorders - FRDA and LGMD2A, in a single Bulgarian pedigree

Scripta Scientifica Medica, 2015
Here we report a single pedigree affected by two different recessive neuromuscular disorders, namely Friedreich ataxia (FRDA) and Limb-Girdle Muscular Dystrophy Type 2A. The molecular genetic testing showed that in this family FRDA is caused by an expanded GAA repeat in compound heterozygous state with a novel point mutation c.442C>T, p.Gln148* on the ...
Savina Tincheva, Albena Todorova, Tihomir Todorov, Vanyo Mitev   +3 more
openaire   +2 more sources

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy. [PDF]

Acta Myol, 2022
Diella E, LoMauro A, Delle Fave M, Cima R, D'Angelo MG.   +4 more
europepmc   +1 more source

Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation. [PDF]

Mol Ther Nucleic Acids, 2023
Müthel S, Marg A, Ignak B, Kieshauer J, Escobar H, Stadelmann C, Spuler S.   +6 more
europepmc   +1 more source

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. [PDF]

Cureus, 2022
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +1 more source