Definitions
from Wiktionary, Creative Commons Attribution/Share-Alike License.
- adjective Describing a group of
myopathies where thecell nuclei areabnormally located in thecentre ofskeletal muscle cells rather than on theperiphery .
Etymologies
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Examples
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Loss of function mutations in BIN1 also results in centronuclear peripheral myopathy [24] characterized by muscle weakness, which could be explained by calcium dysregulation.
PLoS Biology: New Articles Ting-Ting Hong et al. 2010
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Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, et al. (2007) Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
PLoS Biology: New Articles Ting-Ting Hong et al. 2010
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Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, et al. (2007) Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
PLoS ONE Alerts: New Articles Coralie Spiegelhalter et al. 2010
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