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Zebra body myopathy

Disease definition

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

ORPHA:97240

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: -
  • ICD-10: G71.2
  • OMIM: -
  • UMLS: C0270969
  • MeSH: -
  • GARD: -
  • MedDRA: -
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