Results 21 to 30 of about 2,881 (205)

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Familial centronuclear myopathy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1970
The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the number of cases now reported with this constellation of physical signs and pathological changes in the muscles. A review of these patients suggests the existence of several different diseases causing this picture, though ...
W G, Bradley, D L, Price, C K, Watanabe
openaire   +2 more sources

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +2 more sources

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +10 more sources

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge [PDF]

, 2014
BACKGROUND: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data ...
Adzhubey, I., Andorf, J. L., Azaiez, H., Bair, T., Bassuk, A. G., Beggs, A. H., Biskup, S., Black-Ziegelbein, E. A., Booth, K., Bossler, A., Braun, M., Braun, T. A., Brownstein, C. A., Campbell, C. A., Cassa, C. A., Corsmeier, D., Darbro, B., de Bakker, P. I., Dechene, E. T., Deluca, A. P., Deng, M., Duzkale, H., Dworzy Ski, P., Edens, E., Fairbrother, W., Finkel, R. S., Fitzgerald-Butt, S., Flannery, K. C., Francioli, L., Freisinger, P., Funke, B. H., Giovanni, M. A., Gugenmus, C., Hahn, A., Handsaker, R. E., Herman, G., Heusel, J. W., Holm, I. A., Homer, N., Huang, J., Klocke, B., Kolbe, D. L., Kwitek, A., Lage, K., Lamb-Thrush, D., Lebo, M. S., Lek, M., Leshchiner, I., Luquette, L. J., Lyon, E., Macarthur, D. G., Maga, T., Majzoub, J., Mathews, K., McCallie, D., McLaughlin, H. M., Medne, L., Mendelsohn, N. J., Menzel, M., Merriman, B., Meyer, N., Moore, S. A., Murray, M. F., Neupert, P., Panzer, K., Perner, S., Pers, T. H., Polak, P. P., Price, E. N., Raychaudhuri, S., Rehm, H. L., Ryckman, K., Savage, S. K., Scheetz, T. E., Schubach, M., Segal, M. M., Shchelochkov, O. A., Shearer, A. E., Sheffield, V. C., Smith, R. J., Soemedi, R., Sompallae, R., Stitziel, N. O., Stone, E. M., Sunyaev, S. R., Supper, J., Szolovits, P., Temme, R., Towne, M. C., Trapane, P., Tromp, G., Van Daele, D., Vestecka, S., Wang, K., Wassink, T., White, P., Willard, H. F., Williams, M. S., Yu, T. W., Yum, S. W.   +99 more
core   +6 more sources

Defective membrane remodeling in neuromuscular diseases: insights from animal models. [PDF]

PLoS Genetics, 2012
Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases.
Belinda S Cowling, Anne Toussaint, Jean Muller, Jocelyn Laporte   +3 more
doaj   +1 more source

Not young but still immature: a HIF-1α–mediated maturation checkpoint in regenerating muscle

The Journal of Clinical Investigation, 2022
Muscle fibers express particular isoforms of contractile proteins, depending on the fiber’s function and the organism’s developmental stage. In the adult, after a muscle injury, newly generated fibers transition through embryonic and neonatal myosins ...
Rahagir Salekeen, Michael Kyba
doaj   +1 more source

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia

Human Genome Variation, 2023
Striated muscle preferentially expressed protein kinase (SPEG) variants have been reported to cause centronuclear myopathy associated with cardiac diseases.
Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh   +12 more
doaj   +1 more source

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +3 more sources

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]

, 2015
We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni, Bertini, E., Böhm, J., Fattori, F., Garibaldi, Matteo, Laporte, J., Laschena, F., Ottaviani, P., Romero, N.   +8 more
core   +1 more source