Results 1 to 10 of about 2,279 (131)

Myeloma-Associated Sporadic Late-Onset Nemaline Myopathy, Successfully Treated with Daratumumab Based Induction and Autologous Stem Cell Transplantation: A Case Report. [PDF]

EJHaem
ABSTRACT Sporadic late‐onset nemaline myopathy (SLONM) is a rare, acquired myopathy often associated with monoclonal gammopathy. We report a 48‐year‐old man presenting with progressive proximal and truncal muscle weakness in whom SLONM associated with smoldering myeloma was highly suspected.
Moriwaki K, Kawano Y, Nakajima M, Nishimura N, Ueda M, Yasunaga JI.   +5 more
europepmc   +2 more sources

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8. [PDF]

Mol Genet Genomic Med
This finding may broaden the pathogenic variant of c.1327G> A in the KLHL40 gene causing NEM8 and clarify the genotype and phenotype correlation. ABSTRACT Background Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the ...
Zhuang J, Hong M, Huang Q, Jiang Y, Wang J.   +4 more
europepmc   +2 more sources

Successful Bortezomib-Lenalidomide-Dexamethasone Therapy in a 72-Year-Old Patient With Sporadic Late-Onset Nemaline Myopathy Associated With Monoclonal Gammopathy of Muscle Significance. [PDF]

Muscle Nerve
Muscle &Nerve, Volume 74, Issue 3, Page 756-758, September 2026.
Komatsu H, Komaki S, Maeda M, Kubota A, Yuasa M, Kurokawa M, Morishima R, Uruha S, Uruha A, Nishino I, Hamada M, Toda T, Satake W.   +12 more
europepmc   +2 more sources

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways [PDF]

Frontiers in Neurology
BackgroundNemaline myopathy is a rare congenital muscle disorder characterized by the presence of nemaline rods, protein aggregates, in muscle fibers. Pathogenic variants in several genes, most commonly NEB and ACTA1, which encode thin filament proteins ...
Carola Hedberg-Oldfors, Ali Zeki Bedir, Ali Zeki Bedir, Kittichate Visuttijai, Eva Michael, Anders Oldfors   +5 more
doaj   +2 more sources

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment [PDF]

BMC Neurology, 2023
Background Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods.
Anirban Nandy, Hatice Tankisi, Anne Bruun Krøigård, Maiken Glud Dalager, Marie Skov Hvidbjerg, Henrik Daa Schrøder, Izabella Obál   +6 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation [PDF]

Stem Cell Research
Nemaline myopathy is a rare genetic condition characterized by weakened muscles due to thread-like rods, called nemaline bodies, in muscle fibers. This condition varies in time of onset and severity.
Meghan Hanley, Shiqiao Ye, Jingting Zhu, Yang Yu, Hui Lin, Kevin Flanigan, Afrooz Rashnonejad, Ming-Tao Zhao   +7 more
doaj   +2 more sources

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion [PDF]

Skeletal Muscle
Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson, Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen Ottenheijm, Henk Granzier, James J. Dowling   +7 more
doaj   +2 more sources

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurology Open
Background Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the
Menachem Sadeh, Yakov Fellig, Ron Dabby
doaj   +2 more sources

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]

Neonatal Medicine, 2021
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Lee   +3 more
doaj   +1 more source

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk, Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar   +8 more
doaj   +1 more source