Results 1 -
4
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4
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"Myopathy," "centronuclear," 2
- ... K, Druschky KF, Weis J, Fischer D. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients ... 217-42. doi: 10.1385/nmm:8:1-2:217. Citation on PubMed Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr;20( ...
- ... in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. ...
- ... the TTN gene have been found to cause centronuclear myopathy, a condition that is characterized by muscle weakness ( ... It is unclear how TTN gene variants cause centronuclear myopathy, but it is likely that a shortage of ...
- ... This Health Condition MedlinePlus Genetics provides information about Centronuclear myopathy More About This Health Condition CCD MHS MHS1 ... JJ. Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J ... involved. Cell Calcium. 2005 Feb;37(2):121-7. doi: 10.1016/j.ceca.2004. ...