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Results 11 - 20 of 25 for "Myopathy," "distal," 5
  1. Freeman-Sheldon syndrome 
    ... Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and ... syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  2. TNNT3 gene 
    ... M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 ... skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tnnt3 - Genetics
  3. MYH3 gene 
    ... and functional significance. Skelet Muscle. 2015 Jul 15;5:22. doi: ... myosin myopathy that persists postnatally. Arch Neurol. 2008 Aug;65( ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  4. MATR3 gene 
    ... MATR3 gene has been identified in people with distal myopathy 2, a condition characterized by muscle and vocal cord weakness. The MATR3 gene mutation associated with distal myopathy 2 changes a single protein building block (amino ...
    https://medlineplus.gov/genetics/gene/matr3 - Genetics
  5. DYSF gene 
    ... FLJ90168 LGMD2B Tests of DYSF PubMed DYSFERLIN; DYSF MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT NCBI Gene ClinVar ... 1600-0854.2007.00573.x. Epub 2007 Jun 5. Citation on PubMed Han R, Campbell KP. Dysferlin ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
  6. Rippling muscle disease 
    ... mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a ... 42. doi: 10.1016/B978-0-08-045031-5.00010-4. Citation on PubMed Gazzerro E, Sotgia ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  7. Isolated hyperCKemia 
    ... mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, rippling muscle disease, and ... familial isolated hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004. ...
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia - Genetics
  8. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  9. Myofibrillar myopathy 
    ... Myofibrillar myopathy 4 Genetic Testing Registry: Myofibrillar myopathy 5 Genetic Testing Registry: Myofibrillar myopathy 6 Genetic Testing ... 3; MFM3 MYOPATHY, MYOFIBRILLAR, 4; MFM4 MYOPATHY, MYOFIBRILLAR, 5; MFM5 MYOPATHY, MYOFIBRILLAR, 6; MFM6 PubMed Ferrer I, ...
    https://medlineplus.gov/genetics/condition/myofibrillar-myopathy - Genetics
  10. Myotonic dystrophy 
    ... focus. Am J Hum Genet. 2004 May;74(5):793-804. doi: 10.1086/383590. Epub 2004 ... muscle disease. Curr Opin Neurol. 2007 Oct;20(5):572-6. doi: 10.1097/WCO.0b013e3282ef6064. Citation ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
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