Results 51 to 60 of about 2,741 (208)

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features.
Chan, AOK, Chan, HSS, Chan, TSK, Cheng, Y, Cherk, SWW, Fung, STH, Ho, RSL, Ip, JJK, Lam, WMW, Lee, CN, Lee, HCH, Liu, KT, Ng, GSF, Shek, WH, Wong, S, Wong, VCN   +15 more
core   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source

Disrupted autophagy undermines skeletal muscle adaptation and integrity [PDF]

, 2016
This review assesses the importance of proteostasis in skeletal muscle maintenance with a specific emphasis on autophagy. Skeletal muscle appears to be particularly vulnerable to genetic defects in basal and induced autophagy, indicating that autophagy ...
A Amalfitano, A Hishiya, A Kihara, A Osio, A Roos, A Ulbricht, A Ulbricht, AA Ruparelia, AB Moller, AC Nascimbeni, AW Beharry, AZ Caron, B Mohapatra, BC Beehler, BF Miller, C Behl, C He, C Mammucari, C Palma De, D Frank, D Frank, D Selcen, DJ Klionsky, DJ Klionsky, E Cabet, E Eden, E Masiero, E Masiero, E Tresse, EL Eskelinen, EL Eskelinen, Elliot J. Jokl, ES Moreira, F Lo Verso, FJ Ramos, G Blanco, G Dobrowolny, G Milan, Gonzalo Blanco, I Nemazanyy, I Nishino, I Tanida, J Laporte, J Sarparanta, J Schessl, J Zhao, JA Rodriguez-Navarro, JC Choi, JC Kaplan, JF Dice, JJ Wu, JN Rauch, JW Frey, K Baar, K Baar, K Gehmlich, K Sugie, KH Kim, KM Fetalvero, KP Bibee, KW Hsueh, L Brive, L Klinge, LG Goldfarb, LM Baehr, LP Winkel, LR Bridges, M Chrisam, M Kabbage, M Minoia, M Miyazaki, M Mofarrahi, M Pauly, M Sandri, M Vatta, M Vorgerd, MA Hauser, MC Malicdan, MJ Drummond, MS Bhuiyan, N Mizushima, N Mizushima, N Raben, N Raben, N Ramachandran, NC Chang, NP Whitehead, P Grumati, P Grumati, P Vicart, PV Schu, R Medina, R Medina, S Eghtesad, S Homma, S Lange, S Pattingre, S Schiaffino, S Waters, SC Bodine, SC Bodine, SJ Foltz, SK Custer, T Cullup, T Fukuda, T Fukuda, T Hidvegi, T Wenz, TN Stitt, V Arndt, V Carmignac, V Kirkin, V Schaeffer, V Tosch, VA Lira, Y Benjamini, Y Cao, Y Morikawa, Y Tanaka, Y Tian, Y Wang, Y Wei   +121 more
core   +1 more source

Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates. [PDF]

, 2021
BACKGROUND: Two Labrador retriever littermates were identified based on incidentally noted marked microcytosis and inappropriate metarubricytosis. Muscle atrophy was noted and associated with distinctive pathological findings in biopsy samples from 1 dog
A Hutton, Tabitha, Guo, Ling, Kaiman, Gregory, Loughran, Kerry, Shelton, G, Thomas-Hollands, Alison, Walsh, Koranda   +6 more
core   +1 more source

X-LINKED RECESSIVE MYOTUBULAR MYOPATHY [PDF]

Pediatric Research, 1984
We studied a family with four neonatal deaths due to X-linked myotubular myopathy. The cardinal features of the two index patients included low Apgar scores, weak respiratory efforts requiring intubation and positive pressure ventilation, flaccidity, lethargy, hypotonia, reduced muscle mass, no spontaneous movements, poor grasp, suck, and Moro reflexes,
Siegfried M Pueschel, Mary M Ambler, Charles Neave, Barbara G Tutschka, Jay M Orson, Don B Singer   +5 more
openaire   +1 more source

Mechanical Stimulation Induces Yap Mediated OCTN2 Transcription to Enhance Carnitine Metabolism in Sarcopenia

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Sarcopenia is a systemic skeletal muscle disease that seriously affects the health of the aged population. Exercise prevents sarcopenia, but the underlying mechanobiological and metabolic mechanisms need to be further investigated. Methods Carnitine and organic cation transporter 2 (OCTN2) levels were assessed in humans and animals ...
Yahong Lu, Yu Bai, Weiqing Li, Zhiguo Zhou, Heihuan Lai, Xingyu Hu, Tao Yang, Chendi Wang, Yitao Chen, Keping Gan, Kechi Li, Haiwei Ma, Lin Shen, Dengwei He   +13 more
wiley   +1 more source

Structural rationale to understand the effect of disease-associated mutations on Myotubularin

Current Research in Structural Biology, 2023
Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide.
Teerna Bhattacharyya, Avishek Ghosh, Shailya Verma, Padinjat Raghu, Ramanathan Sowdhamini   +4 more
doaj   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 2 : retrievers and other breed types [PDF]

, 2016
A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core  

A phylogenetic survey of myotubularin genes of eukaryotes: distribution, protein structure, evolution, and gene expression [PDF]

, 2010
Background Phosphorylated phosphatidylinositol (PtdIns) lipids, produced and modified by PtdIns kinases and phosphatases, are critical to the regulation of diverse cellular functions.
David Kerk, Greg BG Moorhead
core   +1 more source