Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. (Record no. 24969676)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02314 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517034919.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.37188 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Charif, Majida |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160609 |
| 245 00 - TITLE STATEMENT | |
| Title | Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Oct 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2366-74 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathies |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex I |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex II |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex III |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex IV |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Potential, Mitochondrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondria |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Disk |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Nerve Diseases |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Transfer, Phe |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA-Binding Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Visual Acuity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Titah, Salah Mohamed Cherif |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roubertie, Agathe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desquiret-Dumas, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gueguen, Naig |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meunier, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leid, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Massal, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanlonghi, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercier, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raynaud de Mauverger, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Procaccio, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mousson de Camaret, Bénédicte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lenaers, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian P |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 167A |
| -- | no. 10 |
| -- | p. 2366-74 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.37188">https://doi.org/10.1002/ajmg.a.37188</a> |
| Public note | Available from publisher's website |
No items available.