Results 111 to 120 of about 333,621 (210)

Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1913
openaire   +2 more sources

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient. [PDF]

Front Genet, 2022
Ji G, Wang N, Han X, Wang Y, Zhang J, Wu Y, Wu H, Ma S, Song X.   +8 more
europepmc   +1 more source

A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy. [PDF]

Eur Heart J Case Rep, 2021
Alvarez CK, Swales H, Kluger J.
europepmc   +1 more source

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case

Frontiers in Genetics
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides ...
Daniele Velardo, Claudia Alberti, Delia Gagliardi, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Simona Zanotti, Michela Ripolone, Michele Giovanni Croce, Giuseppe Cosentino, Giuseppe Cosentino, Gabriele Tumminello, Marco Locatelli, Marco Locatelli, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Sabrina Ravaglia, Dario Ronchi, Dario Ronchi   +20 more
doaj   +1 more source

A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores. [PDF]

CNS Neurosci Ther, 2021
Chen L, Chen DF, Dong HL, Liu GL, Wu ZY.
europepmc   +1 more source

The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy

Distal arthrogryposis (DA) is a group of nonprogressive congenital muscular disorders affecting distal limb joints, without concurrent neuromuscular disease. Ten different types of DAs are known, with many different genes involved.
Rashid, Asma, Paladini, Dario, Altin, Nami, Mamchaoui, Kamel, Capra, Valeria, Corradi, Beatrice, Trollet, Capucine, Ohana, Jessica, Bodamer, Olaf, Punetha, Jaya, Zara, Federico, Quijano-Roy, Susana, Bigot, Anne, Nosrati, Mohammad Sadegh Shams, Ognibene, Marzia, Madia, Francesca, Maragliano, Luca, Iacomino, Michele, Scala, Marcello   +18 more
core   +1 more source

Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial Weakness. [PDF]

Neurol Genet, 2021
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B.   +14 more
europepmc   +1 more source

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress. [PDF]

Cells, 2022
Fernández-Gómez A, Velasco BR, Izquierdo JM.   +2 more
europepmc   +1 more source

Locking plates for distal femur fractures does an increased working length improve healing? [PDF]

, 2013
Includes abstract.Includes bibliographical references.Distal femur locking plates have become a very popular means of internal fixation because of their ability to provide stable distal periarticular fixation.
Koller, Ian M
core  

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +1 more source