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Results 1 - 10 of 12 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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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