Myopathology in patients with a Noonan phenotype

Acta Neuropathologica

Volumn 92, Issue 6, 1996, Pages 597-602

  De Boode, W P ^a   Semmekrot, B A ^a   Ter Laak, H J ^a   Van Der Burgt, C J A M ^a   Draaisma, J M T ^a   Lommen, E J P ^b   Sengers, R C A ^a   Van Wijk Hoek, J M ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ST JOSEPH HOSPITAL   (Netherlands)

Author keywords

Cardiomyopathy; Hypotonia; Muscle spindle; Myopathy; Noonan syndrome

Indexed keywords

ARTICLE; CASE REPORT; DENSITY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; INFANT; MALE; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE SPINDLE; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE;

CARDIOMYOPATHY, HYPERTROPHIC; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE FIBERS; MUSCLE SPINDLES; MUSCLE, SKELETAL; MYOCARDIUM; NOONAN SYNDROME; PHENOTYPE;

EID: 0029847233     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050566     Document Type: Article

References (29)

1. Allanson JE, Hall JG, Hughes HE, et al (1985) Noonan syndrome: the changing phenotype. Am J Med Genet 21:507-514
2. Burch M, Mann MM, Sharland M, et al (1992) Myocardial disarray in Noonan syndrome. Br Heart J 68:586-588
3. Cazzato G, Walton J (1968) The pathology of the muscle spindle: a study of biopsy material in various muscular and neuromuscular diseases. J Neurol Sci 7:15-70
4. Collins E, Turner G (1973) The Noonan syndrome - a review of the clinical and genetic features of 27 cases. J Pediatr 83: 941-950
5. Dunlap CL, et al (1989) The Noonan syndrome - cherubism association. Oral Surg Oral Med Oral Pathol 67:698-705
6. Anonymous (1992) Noonan's syndrome (editorial). Lancet 340: 22-23
7. Heene R (1973) Histological and histochemical findings in muscle spindles in dystrophia myotonica. J Neurol Sci 18:369-372
8. Hunter A, Pinsky L (1986) An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. J Pediatr 86:412-415
9. Jamieson CR, Burgt I van der, Brady AF, et al (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357-360
10. Kerschner C (1888) Bemerkungen über ein besonderes Muskel-system im willkürlichen Muskel. Anat Anz 3:126
11. Kucera J, Walro JM, Reichler J (1989) Role of nerve and muscle factors in the development of rat muscle spindles. Am J Anat 186:144-160
12. Mendez HMM, Opitz JM (1985) Noonan syndrome: a review. Am J Med Genet 21:493-506
13. Milburn A (1984) Stages in the development of the cat muscle spindle. J Embryol Exp Morphol 82:177-216
14. Noonan JA (1994) Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr 33:548-555
15. Noonan JA, Ehmke DA (1963) Associated noncardiac malformations in children with congenital heart disease. J Pediatr 63: 468-470
16. Nora JJ, Nora AH, Sinha AK, et al (1973) The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 127:48-55
17. Opitz JM (1985) Editorial comment: The Noonan syndrome. Am J Med Genet 21:515-518
18. Opitz JM, Weaver D (1985) Editorial comment: the neurofibromatosis - Noonan syndrome. Am J Med Genet 21:477-490
19. Ranke MB, Heidemann P, Kumpfer C, et al (1988) Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 148:220-227
20. Ruffini A (1898) On the minute anatomy of the neuromuscular spindles of the cat, and on their physiological significance. J Physiol (Lond) 23:190
21. Schröder J, Keme P, Scholz (1979) The fine structure of denervated and reinnervated muscle spindles: morphometric study of intrafusal muscle fibers. Acta Neuropathol (Berl) 46:95-106
22. Sekiya S, Homma S, Miyata K, et al (1986) Effects of nerve growth factor on differentiation of muscle spindles following nerve lesions in neonatal rats. J Neurosci 6:2019-2025
23. Sharland M, Burch M, McKenna WM, et al (1992) A clinical study of Noonan syndrome. Arch Dis Child 67:178-183
24. Sharland M, Morgan M, Patton M (1993) Photoanthropometric study of facial growth in Noonan syndrome. Am J Med Genet 45:430-436
25. Sharland M, Morgan M, Smith G, et al (1993) Genetic counseling in Noonan syndrome. Am J Med Genet 45:437-440
26. Sherrington C (1894) On the anatomical constitution of nerves of skeletal muscles; with remarks on recurrent fibres in the ventral spinal nerve roots. J Physiol (Lond) 17:211
27. Soukup T, Pedrosa-Domellof F, Thornell LE (1995) Expression of myosin heavy chain isoforms and myogenesis of intrafusal fibers in rat muscle spindles. Microsc Res Tech 30: 390-407
28. Voss (1971) Tabelle der absoluten und relativen Muskelspindelzahlen der menschlichen Skeletmuskulatur. Anat Anz 129: 562-572
29. Wilson DI, Bennet Britton S, McKeown C, et al (1993) Noonan's and DiGeorge syndromes with monosomy 22q11. Arch Dis Child 68:187-189