Medical complications in long-term survivors with X-linked myotubular myopathy

Journal of Pediatrics

Volumn 134, Issue 2, 1999, Pages 206-214

  Herman, Gail E ^a,b,c,d   Finegold, Milton ^a,b,c   Zhao, Wei ^a,b,c   De Gouyon, Beatrice ^a,b,c   Metzenberg, Aida ^a,b,c  

^a OHIO STATE UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c CALIFORNIA STATE UNIVERSITY   (United States)

^d NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; COGNITIVE DEVELOPMENT; CONTROLLED STUDY; DISEASE COURSE; FOLLOW UP; GALLSTONE; GENE DELETION; HUMAN; LIVER DYSFUNCTION; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RISK ASSESSMENT; SCHOOL CHILD; SPHEROCYTOSIS;

EID: 0032986873     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70417-8     Document Type: Article

References (23)

1. 1. DeAngelis MS, Palmucci L, Leone M, Doriguzzi C. Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases. J Neurol Sci 1991;103:2-9.
2. 2. Joseph A, Pai S, Holden KR, Herman GE. X-linked myotubular myopathy: clinical observations in ten additional patients. Am J Med Genet 1995;59:168-73.
3. 3. Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, et al. The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant and autosomal recessive forms and present state of the DNA studies. J Med Genet 1995;32:673-9.
4. 4. Fardeau M. Congenital myopathies. In: Mastaglia F, Lord Walton J, editors. Skeletal muscle pathology. Edinburgh: Churchill Livingstone; 1992.
5. 5. Laporte J, Hu LJ, Kretz C, Mandel J-L, Kioschis P, Coy JF, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet 1996;13:175-82.
6. 6. Cui X, DeVivo I, Slany R, Miyamoto A, Firestein R, Cleary ML. Association of SET domain and myotubularian-related proteins modulates growth control. Nature Genet 1998;18:331-7.
7. 7. de Gouyon BM, Zhao W, Laporte J, Mandel J-L, Metzenberg A, Herman GE. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Molec Genet 1997;6:1499-504.
8. 8. Laporte J, Guiraud-Chaumeil C, Vincent M-C, Mandel J-L, Tanner SM, Liechti-Gallati, S, et al. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Molec Genet 1997;6:1505-11.
9. 9. Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL. A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. Am J Hum Genet 1997;60:1542-4.
10. 10. Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive mytotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat 1998; 11:62-8.
11. 11. Wallgren-Pettersson C. 58th ENMC Workshop: Myotubular Myopathy; March 20-22, 1998; Naarden, Nederländema. Neuromusc Disord 1998;8: 521-5.
12. 12. Khandelwal M, Malet PF. Pruritis associated with cholestasis, a review of pathogenesis and management. Dig Dis Sci 1994;39:1-8.
13. 13. Barth PG, Dubowitz V. X-linked myotubular myopathy - a long-term follow-up study. Eur J Paediatr Neurol 1998;1:49-56.
14. 14. Griffin JE, Wilson JD. Disorders of the testes and the male reproductive trait. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR, editors. Williams textbook of endocrinology. 9th ed. Philadelphia: WB Saunders & Co; 1998. p. 819-75.
15. 15. Zafrani ES, Cazier A, Baudelot A-M, Feldmann G. Ultrastructural lesions of the liver in human peliosis: a report of 12 cases. Amer J Pathol 1984;349-59.
16. 16. Sherlock S, Dooley J. Diseases of the liver and biliary system. Boston: Blackwell Scientific Publications; 1993. p. 336.
17. 17. Radin DR, Kanel GC. Peliosis hepatis in a patient with human immunodeficiency virus infection. Am J Radiol 1991;156:91-2.
18. 18. Soe KL, Soe M, Cluud C. Liver pathology associated with the use of anabolic steroids. Liver 1992;12:73-9.
19. 19. Saatci I, Coskun M, Boyvat F, Cila A, Gürgey A. MR findings in peliosis hepatis. Pediatr Radiol 1995;25:31-3.
20. 20. Bracero LA, Gambon TB, Evans R, Beneck D. Ultrasonographic findings in a case of congenital peliosis hepatis. J Ultrasound Med 1995;14:483-6.
21. 21. Selby DM, Stocker JT. Focal peliosis hepatis, a sequela of asphyxial death? Pediatr Pathol Lab Med 1995;15: 589-96.
22. 22. Sarnat HB, Roth SI, Jimenez JF. Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. Can J Neurol Sci 1981;8:313-20.
23. 23. Herman GE, Feigenbaum A, Zhao W, Finegold M, deGouyon B, Laporte J, et al. Medical complications in long-term survivors with X-linked myotubular myopathy (MTM1) [abstract]. Am J Hum Genet 1997;61:A49.