Results 81 to 90 of about 1,067 (171)

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation

Case Reports in Neurology, 2014
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi   +5 more
doaj   +1 more source

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy [PDF]

Journal of Clinical Neuromuscular Disease, 2017
Abstract Objective: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. Methods: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower ...
Argov, Zohar, Bronstein, Faye, Esposito, Alicia, Feinsod-Meiri, Yael, Florence, Julaine, Fowler, Eileen, Greenberg, Marcia, Malkus, Elizabeth, Rebibo, Odelia, Siener, Catherine, Caraco, Yoseph, Kolodny, Edwin, Lau, Heather, Pestronk, Alan, Shieh, Perry, Skrinar, Alison, Mayhew, Jill   +16 more
openaire   +4 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation

Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa, Malte Kornhuber, Dominic B. Fee   +2 more
wiley   +1 more source

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
ABSTRACT Background Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase‐like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle
Hui Wang, Ting Zhang, Yanming Xu, Wenhui Fan   +3 more
wiley   +1 more source

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

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   +1 more source

Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women

Clinical Pharmacology in Drug Development, Volume 13, Issue 8, Page 876-883, August 2024.
Abstract N‐Acetyl‐D‐mannosamine (ManNAc) is an endogenous monosaccharide and precursor of N‐acetylneuraminic acid (Neu5Ac), a critical sialic acid. ManNAc is currently under clinical development to treat GNE myopathy, a rare muscle‐wasting disease. In this randomized, open‐label, 2‐sequence, crossover study, 16 healthy women and men were administered a
Allan M. Evans, Gianfranco Fornasini, Tahlia R. Meola, William A. Gahl, Marjan Huizing, Thomas M. Polasek, Stephanie E. Reuter   +6 more
wiley   +1 more source

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

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

The FASEB Journal, Volume 38, Issue 13, 15 July 2024.
N‐glycosylation inhibitions by Tunicamycin (TUN) or by knockdown of phosphomannomutase 2 (PMM2) gene block the C2C12 myoblast fusion and impair the myogenic program. TUN treatment decreased myogenic markers and increased atrophy markers in muscles of WT and MLC/mIgf‐1 mice, which overexpress muscle Igf‐1Ea mRNA isoform.
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri   +13 more
wiley   +1 more source

GNE Myopathy: Rare Muscle Weakness Disease

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core   +1 more source