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Results 1 - 10 of 11 for Distal myopathy
  1. CAV3 gene 
    ... gene mutations have been identified in people with distal myopathy, a disorder characterized by weakness and loss of ... hands and feet. Mutations that cause CAV3-related distal myopathy result in a shortage of caveolin-3 protein ...
    https://medlineplus.gov/genetics/gene/cav3 - 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. MYH7 gene 
    ... MYH7 gene have been found to cause Laing distal myopathy. This condition causes progressive muscle weakness, particularly affecting ... to progressive muscle weakness in people with Laing distal myopathy. More About This Health Condition At least 30 ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  5. ANO5 gene 
    ... Romero N, Leturcq F, Eymard B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol ( ... G, Kiuru-Enari S, Bashir R. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord. 2010 ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  6. DYSF gene 
    ... DYSF gene mutations also cause another dysferlinopathy called distal myopathy with anterior tibial onset. In this condition, the ... lower leg and helps to flex the foot. Distal myopathy with anterior tibial onset later affects the muscles ...
    https://medlineplus.gov/genetics/gene/dysf - Genetics
  7. TTN gene 
    ... extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005 Feb 22;64(4): ... 0000151853.50144.82. Citation on PubMed Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi: ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  8. MYH3 gene 
    ... Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008 Aug;65( ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  9. TPM2 gene 
    ... Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle ... Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  10. 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
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