FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 41; no. 4; p. e50
Main Authors:	Walter, M C, Petersen, J A, Stucka, R, Fischer, D, Schröder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, C O, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Müller-Felber, W, Pongratz, D, Müller, J S, Auerswald, E A, Lochmüller, H
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group Ltd 01-04-2004 BMJ Group
Subjects:	826C>A change Adolescent Adult Amino Acid Sequence Child common mutation Leu276Ile congenital muscular dystrophy DAG dystrophin-associated-glycoprotein complex Female FKRP fukutin-related protein Gene Frequency Germany Humans Immunohistochemistry LGMD LGMD2I limb-girdle muscular dystrophy Male MDC Middle Aged Molecular Sequence Data Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Mutation, Missense Online Mutation Report Point Mutation Polymorphism, Genetic Proteins - genetics Sequence Alignment Germany
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Bibliography:	local:0410e50 ark:/67375/NVC-CX2CRX4Z-0 href:jmedgenet-41-e50.pdf Correspondence to:  H Lochmüller  Gene Center, Ludwig-Maximilians-University, Feodor-Lynen-Str. 25, 81377 Munich, Germany; hanns@lmb.uni-muenchen.de istex:7100A30C7B75B74A790E23FF3C08895C7A32C71F PMID:15060126 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2003.013953