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Select item 29953091.

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

C G Steward, R A Newbury-Ecob, R Hastings, S F Smithson, B Tsai-Goodman, O W Quarrell, W Kulik, R Wanders, M Pennock, M Williams, J L Cresswell, I L Gonzalez, P Brennan

Prenat Diagn. 2010 Oct; 30(10): 970–976. doi: 10.1002/pd.2599

PMCID:: PMC2995309

Abstract Article PDF–194K

Select item 60240702.

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia

Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang

Medicine (Baltimore) 2018 Jun; 97(24): e11074. Published online 2018 Jun 15. doi: 10.1097/MD.0000000000011074

PMCID:: PMC6024070

Abstract Article PDF–630K

Select item 60295183.

X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report

Jacques A. J. Malherbe, Sue Davel

Am J Case Rep. 2018; 19: 678–684. Published online 2018 Jun 12. doi: 10.12659/AJCR.909948

PMCID:: PMC6029518

Abstract Article PDF–1.2M

Select item 44916634.

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Akinori Nakamura

Pharmaceuticals (Basel) 2015 Jun; 8(2): 303–320. Published online 2015 Jun 9. doi: 10.3390/ph8020303

PMCID:: PMC4491663

Abstract Article PDF–907K

Select item 42077525.

Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Surinder M. Singh, Swati Bandi, Dinen D. Shah, Geoffrey Armstrong, Krishna M. G. Mallela

PLoS One. 2014; 9(10): e110439. Published online 2014 Oct 23. doi: 10.1371/journal.pone.0110439

PMCID:: PMC4207752

Abstract Article PDF–1.1M

Select item 65170096.

Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X‐linked dilated cardiomyopathy

John P Bourke, Teofila Bueser, Rosaline Quinlivan, Cochrane Neuromuscular Group

Cochrane Database Syst Rev. 2018; 2018(10): CD009068. Published online 2018 Oct 16. doi: 10.1002/14651858.CD009068.pub3

PMCID:: PMC6517009

Abstract Article PDF–705K

Select item 66011947.

A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy

Geoffrey Lester, Giuseppe Femia, Julian Ayer, Rajesh Puranik

Eur Heart J Case Rep. 2019 Jun; 3(2): ytz055. Published online 2019 May 3. doi: 10.1093/ehjcr/ytz055

PMCID:: PMC6601194

Abstract Article PDF–288K

Select item 36044268.

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

Elim Man, Katherine A Lafferty, Birgit H Funke, Kin-Shing Lun, Shu-Yan Chan, Adolphus Kai-Tung Chau, Brian Hon-Yin Chung

BMJ Case Rep. 2013; 2013: bcr2012007529. Published online 2013 Jan 22. doi: 10.1136/bcr-2012-007529

PMCID:: PMC3604426

Abstract Article PDF–614K

Select item 33318459.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini

BMC Med Genet. 2012; 13: 20. Published online 2012 Mar 28. doi: 10.1186/1471-2350-13-20

PMCID:: PMC3331845

Abstract Article PDF–501K

Select item 987984010.

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series

Niharika Kashyap, Anish Nikhanj, Luke R Gagnon, Basel Moukaskas, Zaeem A Siddiqi, Gavin Y Oudit

Eur Heart J Case Rep. 2023 Jan; 7(1): ytad013. Published online 2023 Jan 11. doi: 10.1093/ehjcr/ytad013

PMCID:: PMC9879840

Abstract Article PDF–1.6M

Select item 180131511.

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.

F Muntoni, M A Melis, A Ganau, V Dubowitz

Am J Hum Genet. 1995 Jan; 56(1): 151–157.

PMCID:: PMC1801315

Summary Page Browse PDF–1.4M

Select item 176836312.

Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy

N Cohen, F Muntoni

Heart. 2004 Aug; 90(8): 835–841. doi: 10.1136/hrt.2003.023390

PMCID:: PMC1768363

Abstract Article PDF–129K

Select item 171599313.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

P D'Adamo, L Fassone, A Gedeon, E A Janssen, S Bione, P A Bolhuis, P G Barth, M Wilson, E Haan, K H Orstavik, M A Patton, A J Green, E Zammarchi, M A Donati, D Toniolo

Am J Hum Genet. 1997 Oct; 61(4): 862–867. doi: 10.1086/514886

PMCID:: PMC1715993

Summary Page Browse PDF–1010K

Select item 105043514.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

A K Gedeon, M J Wilson, A C Colley, D O Sillence, J C Mulley

J Med Genet. 1995 May; 32(5): 383–388. doi: 10.1136/jmg.32.5.383

PMCID:: PMC1050435

Summary Page Browse PDF–1.0M

Select item 102554515.

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid.

I Ostman-Smith, G Brown, A Johnson, J M Land

Br Heart J. 1994 Oct; 72(4): 349–353. doi: 10.1136/hrt.72.4.349

PMCID:: PMC1025545

Summary Page Browse PDF–1.0M

Select item 1040038416.

Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy

Hayato Ohtani, Masao Saotome, Atsushi Sakamoto, Kenichiro Suwa, Yuichiro Maekawa

Intern Med. 2023 Jul 15; 62(14): 2089–2092. Published online 2022 Nov 30. doi: 10.2169/internalmedicine.0745-22

PMCID:: PMC10400384

Abstract Article PDF–768K

Select item 137729417.

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

A Ferlini, N Galié, L Merlini, C Sewry, A Branzi, F Muntoni

Am J Hum Genet. 1998 Aug; 63(2): 436–446. doi: 10.1086/301952

PMCID:: PMC1377294

Summary PDF–3.2M

Select item 101633018.

Possible X linked congenital mitochondrial cardiomyopathy in three families.

K H Orstavik, F Skjörten, M Hellebostad, P Hågå, A Langslet

J Med Genet. 1993 Apr; 30(4): 269–272. doi: 10.1136/jmg.30.4.269

PMCID:: PMC1016330

Summary Page Browse PDF–792K

Select item 1059207519.

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies

Renee Johnson, Robyn Otway, Ephrem Chin, Claire Horvat, Monique Ohanian, Jon A.L. Wilcox, Zheng Su, Priscilla Prestes, Andrei Smolnikov, Magdalena Soka, Guanglan Guo, Emma Rath, Samya Chakravorty, Lukasz Chrzanowski, Christopher S. Hayward, Anne M. Keogh, Peter S. Macdonald, Eleni Giannoulatou, Alex C.Y. Chang, Emily C. Oates, Fadi Charchar, Jonathan G. Seidman, Christine E. Seidman, Madhuri Hegde, Diane Fatkin

Circ Genom Precis Med. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2023 Oct; 16(5): 421–430. Published online 2023 Sep 6. doi: 10.1161/CIRCGEN.123.004221

PMCID:: PMC10592075

Abstract Article PDF–848K

Select item 168296820.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

P A Bolhuis, G W Hensels, T J Hulsebos, F Baas, P G Barth

Am J Hum Genet. 1991 Mar; 48(3): 481–485.

PMCID:: PMC1682968

Summary Page Browse PDF–643K

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Mus musculus NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enric...
Mus musculus NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, clone:F630043N04 product:chemokine (C-C motif) receptor 5, full insert sequence
gi|74213122|dbj|AK170303.1|

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txid49843[Organism:noexp] (35)
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