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Recent advances in nemaline myopathy [PDF]

Neuromuscular Disorders, 2021
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological
Jenni Laitila
exaly   +7 more sources

Nemaline Myopathy

Pediatric Neurology Briefs, 1988
A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
J Gordon Millichap
doaj   +5 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   +3 more sources

Nemaline Myopathy: A Case Report [PDF]

Case Reports in Neurology, 2021
Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve
Adnan A. Mubaraki
doaj   +3 more sources

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +2 more sources

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
ABSTRACT Background Monoclonal gammopathy‐associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late‐onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 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

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

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +2 more sources

In Memoriam: W. King Engel, MD (1930–2025) [PDF]

Ann Neurol
Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Dalakas M, Ringel S.
europepmc   +2 more sources