Results 1 to 10 of about 226 (121)
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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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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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 J. Clayton +9 more
+23 more sources
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 +8 more
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BMC Rheumatology, 2022 Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel +3 more
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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
eNeurologicalSci, 2020 Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara +7 more
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Frontiers in Neurology, 2021 Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases.
Nathalie Laflamme +7 more
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A rare structural myopathy: nemaline myopathy [PDF]
Türk Pediatri Arşivi, 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. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and ...
Yeşilbaş, Osman +7 more
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
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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