Results 31 to 40 of about 7,609 (214)

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +1 more source

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

, 2008
Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N., Mitrani-Rosenbaum, S, Shira Amsili, Stephan Hinderlich, Krause, S, Hinderlich Stephan, Hagit Zer, MacArthur, DG, Mitrani-Rosenbaum Stella, Mitrani-Rosenbaum, Stella, Zer, Hagit, Amsili Shira, Becker-Cohen, M, Hinderlich, S, Amsili, S, Becker-Cohen Michal, Krause, Sabine, Krause Sabine, Kathryn N North, North, Kathryn N., Zer Hagit, Sabine Krause, Daniel G MacArthur, Hinderlich, Stephan, Michal Becker-Cohen, MacArthur Daniel G., Zer, H, MacArthur, Daniel G., Stella Mitrani-Rosenbaum, Becker-Cohen, Michal, Amsili, Shira, North, KN   +31 more
core   +1 more source

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

BMC Neurology, 2019
Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.
Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong   +5 more
doaj   +1 more source

 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

BMC Neurology, 2023
Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai   +12 more
doaj   +1 more source

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle, 2020
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant ...
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen   +7 more
doaj   +1 more source

Good response to plasmapheresis and mycophenolate mofetil in a patient with anti-synthetase syndrome associated with peripheral neuritis and severe prosthetic aortic valve stenosis

Egyptian Rheumatology and Rehabilitation, 2022
Background Idiopathic inflammatory myopathies (IIM) are a disease complex that encompasses several distinctly acquired muscle illnesses. Anti-synthetase syndrome is a subset of IIM that is characterized by the presence of antibodies against aminoacyl ...
Zahraa Nour Eldine Ismail, Elham Azmy Abdulkader Abdellatif   +1 more
doaj   +1 more source

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

Frontiers in Neurology, 2023
IntroductionRimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding
Xiao-jing Wei, Hui Sun, Jing Miao, Ru-qing Qiu, Zong-zhi Jiang, Zhen-wei Ma, Wei Sun, Xue-fan Yu   +7 more
doaj   +1 more source

Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family

Journal of Pediatrics Review, 2020
Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human β-myosin heavy chain.
Shabnam Ghazanfari-Sarabi, Mostafa Rayati, Mohammad Bagher Hashemi-Soteh   +2 more
doaj  

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

HGG Advances, 2023
Summary: Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that ...
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad   +17 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source