Results 1 - 10 of 27 for "Myopathy," "distal," 4
  1. ... on PubMed Central Lamont P, Laing NG. Laing Distal Myopathy. 2006 Oct 17 [updated 2021 Feb 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace ... heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. Citation on ...
  2. ... extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005 Feb 22;64(4):636-42. Citation on PubMed Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi: ...
  3. ... I edited RNAs. Cell. 2001 Aug 24;106(4):465-75. Citation on PubMed
  4. ... 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 ...
  5. ... heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. Citation on ...
  6. ... dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. Review. Citation on PubMed
  7. ... FLJ00175 FLJ90168 LGMD2B Tests of DYSF PubMed DYSFERLIN MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET ClinVar NCBI Gene Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. Review. Citation on PubMed Broglio L, ...
  8. ... 10.1016/B978-0-08-045031-5.00007-4. Review. Citation on PubMed Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol ( ...
  9. ... 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 ...
  10. ... Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. Clin Genet. 2006 Dec;70(6):532-4. Citation on PubMed Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
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