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Results 11 - 20 of 21 for "Myopathy," "distal," 4
  1. TNNI2 gene 
    ... Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. Clin ... skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tnni2 - Genetics
  2. 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
  3. GNE gene 
    ... MC, Noguchi S, Nishino I. Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. ... I, Hayashi YK, Noguchi S. Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta Myol. 2005 Oct;24( ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  4. Rippling muscle disease 
    ... mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a ... 10.1016/B978-0-08-045031-5.00010-4. Citation on PubMed Gazzerro E, Sotgia F, Bruno ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  5. Isolated hyperCKemia 
    ... mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, rippling muscle disease, and ... hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006. ...
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia - Genetics
  6. TNNT3 gene 
    ... isoform 3 troponin T, fast skeletal muscle isoform 4 troponin-T3, skeletal, fast Tests of TNNT3 PubMed ... syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. ...
    https://medlineplus.gov/genetics/gene/tnnt3 - Genetics
  7. Glycogen storage disease type VII 
    ... with the function of muscle cells.There are four types of GSDVII. They are differentiated by their ... glycogen. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-vii - Genetics
  8. Myotonic dystrophy 
    ... and clinical spectrum. Neurology. 2003 Feb 25;60(4):657-64. doi: 10.1212/01.wnl.0000054481. ... doi: 10.1126/science.1088679. Epub 2003 Dec 4. Citation on PubMed Liquori CL, Ricker K, Moseley ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  9. Freeman-Sheldon syndrome 
    ... Burian Syndrome. J Craniofac Surg. 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299. Citation ... 10.1074/jbc.M115.707489. Epub 2016 Mar 4. Citation on PubMed
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  10. Myofibrillar myopathy 
    ... Myofibrillar myopathy 2 Genetic Testing Registry: Myofibrillar myopathy 4 Genetic Testing Registry: Myofibrillar myopathy 5 Genetic Testing ... ONSET; MFM2A MYOPATHY, MYOFIBRILLAR, 3; MFM3 MYOPATHY, MYOFIBRILLAR, 4; MFM4 MYOPATHY, MYOFIBRILLAR, 5; MFM5 MYOPATHY, MYOFIBRILLAR, 6; ...
    https://medlineplus.gov/genetics/condition/myofibrillar-myopathy - Genetics
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