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Results 1 - 10 of 21 for "Myopathy," "distal," 4
  1. Laing distal myopathy 
    ... on PubMed Central Lamont P, Laing NG. Laing Distal Myopathy. 2006 Oct 17 [updated 2021 Feb 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ... 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/condition/laing-distal-myopathy - Genetics
  2. Distal myopathy 2 
    ... 75. doi: 10.1016/s0092-8674(01)00466-4. Citation on PubMed
    https://medlineplus.gov/genetics/condition/distal-myopathy-2 - Genetics
  3. 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
  4. CAV3-related distal myopathy 
    ... 4):538-43. doi: 10.1212/wnl.62.4.538. Citation on PubMed
    https://medlineplus.gov/.../condition/cav3-related-distal-myopathy - Genetics
  5. 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
  6. 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
  7. Miyoshi myopathy 
    ... 10.1016/B978-0-08-045031-5.00007-4. Citation on PubMed Bouquet F, Cossee M, Behin A, Deburgrave N, Romero N, Leturcq F, Eymard B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol ( ...
    https://medlineplus.gov/genetics/condition/miyoshi-myopathy - Genetics
  8. 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
  9. Tibial muscular dystrophy 
    ... novel titin mutation. J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13. Citation on PubMed Udd B, Hackman P. Udd Distal Myopathy - Tibial Muscular Dystrophy. 2005 Feb 17 [updated 2020 ...
    https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy - Genetics
  10. 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
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