Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition [PDF]
Frontiers in NeurologyBackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Magri Francesca +2 more
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Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype [PDF]
Acta Neuropathologica Communications, 2021 The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in MYH2 lead to congenital myopathy clinically featured by ...
Nicolas N. Madigan +8 more
doaj +5 more sources
Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]
BMJ Neurology OpenBackground 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
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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies [PDF]
Acta Neuropathologica Communications, 2023 Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy.
Stefan Nicolau +7 more
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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 +6 more
doaj +3 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 ResearchNemaline 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 +7 more
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Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways [PDF]
Frontiers in NeurologyBackgroundNemaline 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 +5 more
doaj +2 more sources
Anaesthetic implications of nemaline rod myopathy [PDF]
Canadian Anaesthetists’ Society Journal, 1985 Nemaline rod myopathy is an inherited congenital myopathy first described in 1963. Affected patients characteristically present in infancy with a non-progressive hypotonia and symmetrical muscle weakness. The disease affects all skeletal muscles including the diaphragm with sparing of cardiac and other muscle.
M, Cunliffe, F A, Burrows
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Nemaline Myopathy: A Case Report
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 +1 more source
Frontiers in Cell and Developmental Biology, 2021 Actin dynamics plays a crucial role in regulating essential cell functions and thereby is largely responsible to a considerable extent for cellular energy consumption.
Hellen C. Ishikawa-Ankerhold +4 more
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