Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
20p11.23
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]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615084.1.1 | Lebanon | Male | Yes | Progressive external ophthalmoplegia; ... Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ;  | NM_001310338.2:c.456G>A | Homozygous | Autosomal, Recessive | Kornblum et al. 2013 | ||
| 615084.1.2 | Lebanon | Female | Yes | Progressive external ophthalmoplegia; ... Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ; | NM_001310338.2:c.456G>A | Homozygous | Autosomal, Recessive | Kornblum et al. 2013 | Sibling of 615084.1.... | |
| 615084.1.3 | Lebanon | Male | Yes | Progressive external ophthalmoplegia; ... Progressive external ophthalmoplegia; Exercise intolerance ; Skeletal muscle atrophy; Dyspnea; | NM_001310338.2:c.456G>A | Homozygous | Autosomal, Recessive | Kornblum et al. 2013 | Sibling of 615084.1.... |