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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Disease definition

A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G71.2
  • OMIM: 605637
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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