Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome

Pediatric Neurology - Tập 17 - Trang 61-66 - 1997
Miranda L. Skyllouriotis1, Manfred Marx1, Reginald E. Bittner2, Petros Skyllouriotis3, Manfred Gross4, Maria Wimmer1
1Department of Pediatric Cardiology, University of Vienna; Vienna, Austria
2Institute of Anatomy, Department 3; University of Vienna; Vienna, Austria
3Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria
4Medical Policlinic, University of Munich, Munich, Germany

Tài liệu tham khảo

Fishbein, 1978, Myoadenylate deaminase deficiency: A new disease of muscle, Science, 200, 545, 10.1126/science.644316 Zöllner, 1986, Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose, Klin Wochenschr, 64, 1281, 10.1007/BF01785710 Di Mauro, 1980, Myoadenylate deaminase deficiency. Muscle biopsy and muscle culture in a patient with gout, J Neurol Sci, 47, 191 Kramer, 1974 Dubowitz, 1973 Fishbein, 1980, Stain for skeletal muscle adenylate deaminase: An effective tetrazolium stain for frozen biopsy specimens, Arch Pathol Lab Med, 104, 462 Wieland, 1985, Free and esterified camitine: colorimetdc method, vol. VIII, 481 Gross, 1994, New method for detection of C34-T mutation in the AMPDI gene causing myoadenylate deaminase deficiency, Ann Rheum Dis, 53, 353, 10.1136/ard.53.5.353 Kelemen, 1982, Familial myoadenylate deaminase deficiency and exertional myalgia, Neurology, 32, 857, 10.1212/WNL.32.8.857 Shumate, 1980, Adenylate deaminase deficiency in a hypotonic infant, J Pediatr, 96, 885, 10.1016/S0022-3476(80)80569-5 Rossi, 1984, Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain, Helv Paediatr Acta, 39, 89 Gross, 1994, Identification of functional domains in AMPDI by mutational analysis, Biochem Biophys Res Commun, 205, 1010, 10.1006/bbrc.1994.2767 Scholte, 1981, Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy, J Inher Metab Dis, 4, 169, 10.1007/BF02263644 Pons, 1995, Primary and secondary carnitine deficiency syndromes, J Child Neurol, 10, 2S8, 10.1177/0883073895010002S03 Dodge, 1983, Cerebral gigantism, Dev Med Child Neurol, 26, 246 Beemer, 1986, Cerebral gigantism (Sotos-syndrome) in two patients with fra (X) chromosomes, Am J Med Genet, 23, 221, 10.1002/ajmg.1320230117 Gemelli, 1982, Sindroma di Sotos in due fratelli, Min Pediatr, 34, 983 Nakada, 1982, A case of cerebral gigantism with cerebral aberrations, Jpn J Hum Genet, 27, 171 Schrander-Stumpel, 1990, Sotos-syndrome and de novo balanced autosomal translocation (p21;p21), Clin Genet, 37, 226, 10.1111/j.1399-0004.1990.tb03507.x Tamaki, 1989, Sotos-syndrome with a balanced reciprocal translocation t(2;12)(g33.3; q15), Ann Genet, 32, 244 Cole, 1992, Small cell lung carcinoma in a patient with Sotos syndrome: Are genes at 3q2I involved in both conditions?, J Med Genet, 29, 338, 10.1136/jmg.29.5.338 Bernstein, 1986, Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population, South Afr Hum Genet, 74, 223 Zeuthen, 1973, Pericentric y inversion in the general population, Hum Genet, 19, 265, 10.1007/BF00278400 Hsu, 1987, Chromosomal polymorphisms of 1,9,16, and Y in 4 major ethnic groups: A large prenatal study, Am J Med Genet, 26, 95, 10.1002/ajmg.1320260116