Results 51 to 60 of about 1,216 (116)

Myeloma‐Associated Sporadic Late‐Onset Nemaline Myopathy, Successfully Treated with Daratumumab Based Induction and Autologous Stem Cell Transplantation: A Case Report

eJHaem, Volume 7, Issue 5, October 2026.
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.
Kenji Moriwaki, Yawara Kawano, Makoto Nakajima, Nao Nishimura, Mitsuharu Ueda, Jun‐ichirou Yasunaga   +5 more
wiley   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley   +1 more source

Proteomic profiling of sporadic late‐onset nemaline myopathy

Annals of Clinical and Translational Neurology, 2022
Objective To define the proteomic profile of sporadic late‐onset nemaline myopathy (SLONM) and explore its pathogenesis. Methods We performed mass spectrometry on laser‐dissected frozen muscle samples from five patients with SLONM, three of whom with an ...
Elie Naddaf, Surendra Dasari, Duygu Selcen, M. Cristine Charlesworth, Kenneth L. Johnson, Michelle L. Mauermann, Taxiarchis Kourelis   +6 more
doaj   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone, Stefan Nicolau, Zhiyv Niu, Teerin Liewluck, Eric J. Sorenson, Xin‐Ming Shen, C. Michael Harper, William J. Litchy   +7 more
wiley   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1742-1748, July 2026.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

A rare structural myopathy: nemaline myopathy

, 2018
Nemaline myopathy, which is characterized by the accumulation of "rod" bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes.
Akkus, Canan Hasbal, Onder Sahin, Petmezci, Mey Talip, Ersoy, Melike, Hasan Serdar Kihtir, Sevketoglu, Esra, Esra Sevketoglu, Serdar Ceylaner, Yesilbas, Osman, Mey Talip Petmezci, Melike Ersoy, Canan Hasbal Akkus, Ceylaner, Serdar, Sahin, Onder, Osman Yesilbas, Kihtir, Hasan Serdar   +15 more
core   +1 more source

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. [PDF]

PLoS ONE, 2012
Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear.
Julien Ochala, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak   +3 more
doaj   +1 more source

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

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
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 ...
Jianlong Zhuang, Meiling Hong, Qiumei Huang, Yuying Jiang, Junyu Wang   +4 more
wiley   +1 more source

Nemaline myopathy diagnosed in two young Border collies in formalin-fixed paraffin-embedded muscle samples using conventional stains [PDF]

, 2018
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified.
Klausmann, Stefanie, Sydler, Titus, Beckmann, Katrin, Dettwiler, Martina Andrea, Hilbe, Monika   +4 more
core   +1 more source

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

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   +1 more source