Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy [PDF]
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 +8 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
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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
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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
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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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Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion [PDF]
Skeletal MuscleBiallelic 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 +7 more
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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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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
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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 S. Silverstein +8 more
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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 +3 more
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