Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (Record no. 20360658)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01862 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516012225.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201106s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1365-2990 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1365-2990.2010.01149.x |
| 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 | Bevilacqua, J A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110620 |
| 245 00 - TITLE STATEMENT | |
| Title | Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuropathology and applied neurobiology |
| Date of publication, distribution, etc. | Apr 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 271-84 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Cell Nucleus |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | Genes, Recessive |
| 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 | Immunohistochemistry |
| 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 | Microscopy, Electron, Transmission |
| 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 | Myofibrils |
| General subdivision | ultrastructure |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myopathy, Central Core |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ryanodine Receptor Calcium Release Channel |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monnier, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bitoun, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eymard, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferreiro, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monges, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lubieniecki, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taratuto, A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laquerrière, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claeys, K G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marty, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fardeau, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guicheney, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lunardi, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, N B |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuropathology and applied neurobiology |
| Related parts | vol. 37 |
| -- | no. 3 |
| -- | p. 271-84 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2990.2010.01149.x">https://doi.org/10.1111/j.1365-2990.2010.01149.x</a> |
| Public note | Available from publisher's website |
No items available.