Mitochondrial Myopathy, Infantile, Transient

Alternative Names

  • MMIT
  • Mitochondrial Myopathy, Infantile, Transient, due to Respiratory Chain Deficiency
  • COX Defieiency Myopathy, Infantile, Transient
  • Respiratory Chain Deficiency, Infantile Transient
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

500009

Mode of Inheritance

Mitochondrial

Gene Map Locus

Mitochondrial

Description

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
500009.1United Arab EmiratesUnknown Failure to thrive; Ptosis; Myopathy;NC_012920.1:m.5591G>AMitochondrialAl-Shamsi et al. 2016 56-59% heteroplasmy
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