Cardiomyopathy in Coffin-Lowry syndrome

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 176-178

  Facher, Jennifer J ^a   Regier, Elizabeth J ^a   Jacobs, Gretta H ^a   Siwik, Ernest ^a   Delaunoy, Jean Pierre ^b   Robin, Nathaniel H ^a,c  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Cardiomyopathy; Coffin Lowry syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; COFFIN LOWRY SYNDROME; CONGESTIVE HEART FAILURE; HEART MUSCLE BIOPSY; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME DELINEATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, X; COFFIN-LOWRY SYNDROME; ENDOCARDIUM; EXONS; FACIES; GENE DELETION; HUMANS; MALE; MICROSCOPY, ELECTRON; PHENOTYPE; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 4444345442     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30056     Document Type: Article

References (10)

1. Chen SC, Balfour IC, Jureidini S. 2001. Clinical spectrum of restrictive cardiomyopathy in children. J Heart Lung Trans 20:90-92.
2. Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. 2001. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Hum Mut 17:103-106.
3. Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL, Couillault G, David A, Verloes A, Lambotte C, Piussan C, Mathieu M. 1988. Coffin-Lowry syndrome: A multicenter study. Clin Genet 34:230-245.
4. Hunter AGW. 2002. Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes. Am J Med Genet 111:345-355.
5. Massin MM, Radermeeker MA, Verloes A, Jacquot S, Grenade T. 1999. Cardiac involvement in Coffin-Lowry syndrome. Acta Paediat Scand 88:468-470.
6. Richardson P, McKenna W, Bristow M. 1996. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circ 93:841-842.
7. Rivenes SM, Kearney DL, Smith EO, Towbin JA, Denfield SW. 2000. Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circ 22(102):876-882.
8. Weller RJ, Weintraub R, Addonizio LJ, Chrisant MR, Gersony WM, Hsu DT. 2002. Outcome of idiopathic restrictive cardiomyopathy in children. Am J Card 90:501-506.
9. Young ID. 1988. The Coffin-Lowry syndrome. J Med Genet 25:344-348.
10. Zeniou M, Pannetier S, Fryns J-P, Hanauer A. 2002. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Am J Hum Genet 70:1421-1433.