Literature DB >> 15060126

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

M C Walter1, J A Petersen, R Stucka, D Fischer, R Schröder, M Vorgerd, A Schroers, H Schreiber, C O Hanemann, U Knirsch, A Rosenbohm, A Huebner, N Barisic, R Horvath, S Komoly, P Reilich, W Müller-Felber, D Pongratz, J S Müller, E A Auerswald, H Lochmüller.   

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Year:  2004        PMID： 15060126      PMCID： PMC1735747          DOI： 10.1136/jmg.2003.013953

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  28 in total

1.  Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.

Authors:  Maja von der Hagen; Angela M Kaindl; Kathrin Koehler; Petra Mitzscherling; Hans-Jürgen Häusler; Gisela Stoltenburg-Didinger; Angela Huebner
Journal:  Eur J Pediatr       Date:  2005-09-06       Impact factor: 3.183

2.  Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.

Authors:  Chiara A Boito; Marina Fanin; Bruno F Gavassini; Giovanna Cenacchi; Corrado Angelini; Elena Pegoraro
Journal:  Virchows Arch       Date:  2007-10-20       Impact factor: 4.064

3.  Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.

Authors:  Frank Hanisch; Dörte Grimm; Stephan Zierz; Marcus Deschauer
Journal:  J Neurol       Date:  2009-10-10       Impact factor: 4.849

4.  Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

Authors:  K D Mathews; C M Stephan; K Laubenthal; T L Winder; D E Michele; S A Moore; K P Campbell
Journal:  Neurology       Date:  2011-01-11       Impact factor: 9.910

5.  Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.

Authors:  C Gaul; M Deschauer; C Tempelmann; S Vielhaber; H U Klein; H J Heinze; S Zierz; F Grothues
Journal:  J Neurol       Date:  2006-06-19       Impact factor: 4.849

6.  AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Authors:  Evelyne Gicquel; Natacha Maizonnier; Steven J Foltz; William J Martin; Nathalie Bourg; Fedor Svinartchouk; Karine Charton; Aaron M Beedle; Isabelle Richard
Journal:  Hum Mol Genet       Date:  2017-05-15       Impact factor: 6.150

7.  Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].

Authors:  Chi-Hsien Wang; Yiumo Michael Chan; Ru-Hang Tang; Bin Xiao; Peijuan Lu; Elizabeth Keramaris-Vrantsis; Hui Zheng; Chunping Qiao; Jiangang Jiang; Juan Li; Hsin-I Ma; Qilong Lu; Xiao Xiao
Journal:  Am J Pathol       Date:  2010-12-23       Impact factor: 4.307

Review 8.  Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors:  D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal:  J Inherit Metab Dis       Date:  2017-07-19       Impact factor: 4.982

9.  Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.

Authors:  Amber M Gedlinske; Carrie M Stephan; Shelley R H Mockler; Katie M Laubscher; Karla S Laubenthal; Cameron D Crockett; M Bridget Zimmerman; Katherine D Mathews
Journal:  Neurology       Date:  2020-08-06       Impact factor: 9.910

Review 10.  Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.

Authors:  Volker Straub; Kate Bushby
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620
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