Results 81 to 90 of about 26,442 (131)

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Frontiers in Neurology, 2020
Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Madhu Bala Singla, Madhu Bala Singla, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Logan Gloster, Madhuri Hegde, Madhuri Hegde   +18 more
doaj   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

GNE myopathy: a multifaceted review of genetic, clinical, and management perspectives

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
GNE myopathy is a rare autosomal recessive neuromuscular disorder characterized by progressive distal muscle weakness, early foot drop, and relative sparing of the quadriceps until advanced stages of disease progression.
Zeenia Kersi Avari, Rashna Sam Dastur, Pradnya Satish Gaitonde   +2 more
doaj   +1 more source

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

Two recurrent mutations are associated with GNE myopathy in the North of Britain

, 2014
Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing.
Chaouch, Amina, Sarkozy, Anna, Brennan, Kathryn M., Stewart, Willie, Costigan, Donald, Evangelista, Teresinha, Lochmuller, Hanns, Morrison, Patrick J., Bushby, Kate, Eagle, Michelle, McConville, John, Farrugia, Maria E., Norwood, Fiona, Horvath, Rita, Straub, Volker, Pogoryelova, Oksana, Petty, Richard, Winer, John, Polvikoski, Tuomo, Chinnery, Patrick F., Hudson, Judith, Healy, Estelle, Longman, Cheryl   +22 more
core   +1 more source

Two recurrent mutations are associated with GNE myopathy in the North of Britain

Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing.
Chaouch A, Bushby K, Eagle M, Pogoryelova O, Lochmuller H, McConville J, Chinnery PF, Norwood F, Brennan KM, Stewart W, Horvath R, Longman C, Petty R, Morrison PJ, Healy E, Costigan D, Straub V, Evangelista T, Winer J, Polvikoski T, Sarkozy A, Hudson J, Farrugia ME   +22 more
core   +4 more sources

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression

Cells
GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +1 more source

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy [PDF]

Background: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
Horváth R, Bedrosian C, Behin A, Pogoryelova O, Lochmüller H, Kakkis E, Tournev I, Mozaffar T, Koutsoukos T, Skrinar A, Tarnopolsky M, Shah J   +11 more
core   +4 more sources

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source