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Results 1 - 9 of 9 for "Myopathy," "distal," 4
  1. TTN gene 
    ... extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Citation on PubMed Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  2. CAV3 gene 
    ... to the signs and symptoms of CAV3-related distal myopathy. More About This Health Condition At least four CAV3 gene mutations have been identified in individuals ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  3. MYH7 gene 
    ... heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  4. DYSF gene 
    ... FLJ90168 LGMD2B Tests of DYSF PubMed DYSFERLIN; DYSF MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT NCBI Gene ClinVar Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004. ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
  5. MYH3 gene 
    ... Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis ... syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  6. 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
  7. 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
  8. 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
  9. 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