[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]. (Record no. 17859654)

MARC details
000 -LEADER
fixed length control field 01522 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515113415.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200808s 0 0 fre d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0035-3787
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.neurol.2007.08.008
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 Drouet, A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080801
245 00 - TITLE STATEMENT
Title [Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Revue neurologique
Date of publication, distribution, etc. Feb 2008
300 ## - PHYSICAL DESCRIPTION
Extent 169-76 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; English Abstract; Journal Article
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 Brain
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carrier State
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, X
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Progression
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 Functional Laterality
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 Magnetic Resonance Imaging
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle, Skeletal
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Myopathies, Structural, Congenital
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 Sex Chromosome Disorders
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ollagnon-Roman, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Streichenberger, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Biancalana, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cossée, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guilloton, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Petiot, P
773 0# - HOST ITEM ENTRY
Title Revue neurologique
Related parts vol. 164
-- no. 2
-- p. 169-76
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.neurol.2007.08.008">https://doi.org/10.1016/j.neurol.2007.08.008</a>
Public note Available from publisher's website

No items available.