Multi-minicore Disease

@article{Jungbluth2007MultiminicoreD,
  title={Multi-minicore Disease},
  author={Heinz Jungbluth},
  journal={Orphanet Journal of Rare Diseases},
  year={2007},
  volume={2},
  pages={31 - 31}
}
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1) gene, whereas recessive mutations in the… CONTINUE READING
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