Biomaterial Database

[New mitochondrial DNA mutation in Leber's hereditary optic neuropathy: A case report]. 2018

M Thulliez, and B Laudier, and C Vignal-Clermont, and G Hardy, and P Bonicel

Service d'ophtalmologie, CHR Orléans, 45100 Orléans, France. Electronic address: thulliez.marie@gmail.com.

UI	MeSH Term	Description	Entries
D008279	Magnetic Resonance Imaging	Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.	Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297	Male		Males
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D005654	Fundus Oculi	The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)	Fundus of the Eye,Ocular Fundus,Fundus, Ocular
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense
D020641	Polymorphism, Single Nucleotide	A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.	SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms
D029242	Optic Atrophy, Hereditary, Leber	A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))	Leber Hereditary Optic Atrophy,Hereditary Optic Neuroretinopathy,Leber Hereditary Optic Neuropathy,Leber Optic Atrophy,Leber Optic Atrophy and Dystonia,Leber's Disease,Leber's Hereditary Optic Atrophy,Leber's Hereditary Optic Neuropathy,Leber's Optic Atrophy,Leber's Optic Neuropathy,Optic Atrophy, Leber Type,Optic Atrophy, Leber, Hereditary,Disease, Leber's,Diseases, Leber's,Hereditary Optic Neuroretinopathies,Leber Disease,Leber Optic Neuropathy,Leber's Diseases,Lebers Disease,Lebers Optic Neuropathy,Neuropathy, Leber's Optic,Neuroretinopathies, Hereditary Optic,Neuroretinopathy, Hereditary Optic,Optic Atrophy, Leber,Optic Neuropathy, Leber's,Optic Neuroretinopathies, Hereditary,Optic Neuroretinopathy, Hereditary