TY  - GEN
AU  - Badura-Stronka,Magdalena
AU  - Wawrocka,Anna
AU  - Zawieja,Krzysztof
AU  - Silska,Sylwia
AU  - Krawczyński,Maciej Robert
TI  - Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
SN  - 1872-8278
PY  - 2014///0715
KW  - Adult
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Estrogens
KW  - blood
KW  - Female
KW  - Gonadal Dysgenesis, 46,XX
KW  - pathology
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Optic Atrophy, Hereditary, Leber
KW  - Pedigree
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.mito.2013.05.011
ER  -