A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy. (Record no. 22817604)

MARC details
000 -LEADER
fixed length control field 01418 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516153614.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201402s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1873-2364
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.nmd.2013.04.006
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 Riisager, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140213
245 00 - TITLE STATEMENT
Title A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuromuscular disorders : NMD
Date of publication, distribution, etc. Jul 2013
300 ## - PHYSICAL DESCRIPTION
Extent 562-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dystroglycans
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 Genotype
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 Japan
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mallory Bodies
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Weakness
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Dystrophies
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Dystrophies, Limb-Girdle
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
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 Scoliosis
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duno, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hansen, F Juul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krag, T O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissing, C R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vissing, J
773 0# - HOST ITEM ENTRY
Title Neuromuscular disorders : NMD
Related parts vol. 23
-- no. 7
-- p. 562-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.nmd.2013.04.006">https://doi.org/10.1016/j.nmd.2013.04.006</a>
Public note Available from publisher's website

No items available.