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Optic atrophy 12
- ... 45-53. doi: 10.1016/j.ajhg.2009.12.001. Epub 2009 Dec 31. Citation on PubMed ...
- ... Mol Genet Metab. 2008 Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012. ...
- Exercising with a Muscle Disease (Muscular Dystrophy Association) - PDFMuscular Dystrophy Association ... muscular dystrophy; exercise with a disability; neuromuscular disease; adapted exercise; accesible sports equipment; power ...
- ... individuals may need wheelchair assistance as the muscles atrophy and weakness ... that control eye movement. People with this condition may also have ...
- ... fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; ... include bulging eyes, thick lips, upturned nostrils, and low-set ears. ...
- ... dystrophy type 2. Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub ... on pathophysiology. Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection ...
- ... syndrome. Am J Dis Child. 1979 Dec;133(12):1279-80. doi: 10.1001/archpedi.1979.02130120071014. ...
- ... keratinocytes. Exp Cell Res. 2010 Jul 15;316(12):2008-16. doi: 10.1016/j.yexcr.2010. ... disorders. Eur J Hum Genet. 2002 Dec;10(12):819-24. doi: 10.1038/sj.ejhg.5200883. ...
- ... 254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Citation on PubMed
- ... syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in ... late-onset ataxia. J Neurol. 2014 Dec;261(12):2411-23. doi: 10.1007/s00415-014-7516- ...