Results 131 to 140 of about 7,069 (164)
Some of the next articles are maybe not open access.
Neuromuscular Disorders, 2013
Over 190 mutations in the human skeletal muscle α-actin gene, ACTA1 cause congenital actin myopathies. We transgenically expressed six different mutant actins, G15R, I136M, D154N, V163L, V163M and D292V in Drosophila indirect flight muscles and investigated their effects in flies that express one wild type and one mutant actin copy.
Maria, Sevdali +3 more
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Over 190 mutations in the human skeletal muscle α-actin gene, ACTA1 cause congenital actin myopathies. We transgenically expressed six different mutant actins, G15R, I136M, D154N, V163L, V163M and D292V in Drosophila indirect flight muscles and investigated their effects in flies that express one wild type and one mutant actin copy.
Maria, Sevdali +3 more
openaire +2 more sources
Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review
Pediatric Neurology, 2014Cap myopathy is a rare congenital myopathy characterized by cap structures located at the periphery of the muscle fiber. Cap structures consist of disarranged thin filaments with enlarged Z discs. The clinical presentation and natural history of cap myopathy is variable and overlaps with other congenital myopathies.We describe a 10-year-old boy with ...
Shalea J. Piteau +3 more
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[Structural congenital myopathies].
Revista de neurologia, 2014Congenital myopathies are a heterogeneous group of diseases that share clinical early onset and specific hystopathological alterations in muscle. Genetic studies allow to determine the causative mutation in most cases. Genotypic and phenotypic heterogeneity exists, which is illustrated by noting that a genotype can be expressed in more than one ...
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[An adult case of congenital myopathy--coexistence of nemaline rods and core-like structures].
Rinsho shinkeigaku = Clinical neurology, 1994A 42-year-old female complained of exertional dyspnea and sleep disturbance. Her face was elongated longitudinally and the hard palate was narrow and high-arched. She has slender musculature and kyphoscoliosis. She was dysphonic and could not walk on her heels. Muscles in the face, upper arm, pelvic girdle and thigh were atrophic.
K, Eto +5 more
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Congenital structural myopathies: Clinical and pathologic review of 13 patients
Pediatric Neurology, 1994Umbertina C. Reed +5 more
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
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