Results 91 to 100 of about 3,999 (130)

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation. [PDF]

Cells
Serano M, Fiore F, Sorrentino V, Rossi D.   +3 more
europepmc   +1 more source

Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. [PDF]

Int J Mol Sci
Leońska-Duniec A.
europepmc   +1 more source

A comprehensive framework for the interpretation of TTN missense variants. [PDF]

Genome Med
Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen CT, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B, T. T. N. study group, Gautel M, Savarese M.   +59 more
europepmc   +1 more source

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant Weakness

Jose A, Azily A, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +1 more source

Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy

Acta Neuropathologica, 1998
A 44-year-old man presenting with dyspnoic attacks was found to be affected with congenital myopathy, rigid spine, restrictive respiratory insufficiency and cardiomyopathy. Muscle biopsy showed type 1 fiber predominance (65.7%) and hypotrophy, and characteristic changes in 43.9% of the type 1 fibers, consisting in alternating pale and dark staining on ...
MARBINI A, BADIALI L, BELLANOVA MF, MARGARITO F., GEMIGNANI, Franco   +4 more
openaire   +2 more sources

Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle

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, Vikash, Kumar, Michelle, Peckham, John, Sparrow   +3 more
openaire   +2 more sources

Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review

Pediatric Neurology, 2014
Cap 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, John P. Rossiter, R. Garth Smith, Jennifer J. MacKenzie   +3 more
openaire   +2 more sources

[Structural congenital myopathies].

Revista de neurologia, 2014
Congenital 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 ...
openaire   +2 more sources

[An adult case of congenital myopathy--coexistence of nemaline rods and core-like structures].

Rinsho shinkeigaku = Clinical neurology, 1994
A 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, T, Watanabe, M, Ida, S, Kojima, A, Takagi, K, Narui   +5 more
openaire   +1 more source