Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

Mitochondrion

Volumn 13, Issue 6, 2013, Pages 831-834

  Badura Stronka, Magdalena ^a,b   Wawrocka, Anna ^a   Zawieja, Krzysztof ^c   Silska, Sylwia ^d   Krawczyński, Maciej Robert ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b Center for Medical Genetics GENESIS   (Poland)

^c Saint George Medical Center   (Poland)

^d Multidisciplinary Hospital   (Poland)

Author keywords

HARS2 gene; HSD17B4 gene; Hypoestrogenism; LHON; Perrault syndrome

Indexed keywords

ADENINE; CYTOSINE; ESTROGEN; GENOMIC DNA; GUANINE; LAMOTRIGINE; MITOCHONDRIAL DNA; THYMINE; VALPROIC ACID;

ADULT; AMENORRHEA; ARTICLE; ATAXIA; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; BABINSKI REFLEX; BRAIN CORTEX ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBRAL PALSY; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; DNA SEQUENCE; ESTROGEN DEFICIENCY; EXON; FALLING; FEMALE; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; HARS2 GENE; HETEROZYGOTE; HORMONE ACTION; HSD17B4 GENE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; HYPOESTROGENISM; KARYOTYPING; KYPHOSIS; LEBER HEREDITARY OPTIC NEUROPATHY; LYMPHOCYTE CULTURE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NYSTAGMUS; OPEN READING FRAME; OPTIC NERVE ATROPHY; OPTICAL COHERENCE TOMOGRAPHY; OVARY DYSGENESIS; PERCEPTION DEAFNESS; PERIPHERAL LYMPHOCYTE; PERRAULT SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINAL NERVE FIBER LAYER THICKNESS; SEQUENCE ANALYSIS; SUBCAPSULAR CATARACT; TENDON REFLEX; TONIC CLONIC SEIZURE; VISUAL ACUITY; VISUAL IMPAIRMENT;

HARS2 GENE; HSD17B4 GENE; HYPOESTROGENISM; LHON; PERRAULT SYNDROME;

ADULT; DNA, MITOCHONDRIAL; ESTROGENS; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; YOUNG ADULT;

EID: 84887008922     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.05.011     Document Type: Article

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