Mitochondrial DNA Depletion Syndrome 11

Alternative Names

  • MTDPS11
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

615084

Mode of Inheritance

Autosomal recessive

Gene Map Locus

20p11.23

Description

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness....[From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615084.1.1LebanonMaleYes Progressive external ophthalmoplegia; ... NM_001310338.2:c.456G>AHomozygousAutosomal, RecessiveKornblum et al. 2013
615084.1.2LebanonFemaleYes Progressive external ophthalmoplegia; ... NM_001310338.2:c.456G>AHomozygousAutosomal, RecessiveKornblum et al. 2013 Sibling of 615084.1....
615084.1.3LebanonMaleYes Progressive external ophthalmoplegia; ... NM_001310338.2:c.456G>AHomozygousAutosomal, RecessiveKornblum et al. 2013 Sibling of 615084.1....
615471.2United Arab EmiratesYes Developmental regression; Muscular hyp... NM_012160.4:c.1067delHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Three siblings died ...
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