Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (Record no. 15623679)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01750 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514231911.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0022-3050 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jnnp.2004.046110 |
| 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 | Benedetti, S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050719 |
| 245 00 - TITLE STATEMENT | |
| Title | Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology, neurosurgery, and psychiatry |
| Date of publication, distribution, etc. | Jul 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1019-21 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 | 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 | Biopsy |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Dominant |
| 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 | Lamin Type A |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lamins |
| General subdivision | genetics |
| 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 | Muscle, Skeletal |
| General subdivision | innervation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Atrophy |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophy, Emery-Dreifuss |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurologic Examination |
| 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 | Peripheral Nervous System Diseases |
| General subdivision | diagnosis |
| 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 | Sural Nerve |
| General subdivision | pathology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iannaccone, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Angelini, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trisciani, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toniolo, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sferrazza, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carrera, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Comi, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrari, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quattrini, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Previtali, S C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology, neurosurgery, and psychiatry |
| Related parts | vol. 76 |
| -- | no. 7 |
| -- | p. 1019-21 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jnnp.2004.046110">https://doi.org/10.1136/jnnp.2004.046110</a> |
| Public note | Available from publisher's website |
No items available.