The floppy infant: Contribution of genetic and metabolic disorders

Brain and Development

Volumn 25, Issue 7, 2003, Pages 457-476

  Prasad, Asuri N ^a,b   Prasad, Chitra ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

Author keywords

Diagnosis; Floppy infant; Genetics; Investigation; Metabolic

Indexed keywords

GENETIC DISORDER; HUMAN; INFANTILE HYPOTONIA; MEDICAL ASSESSMENT; MEDICAL PRACTICE; METABOLIC DISORDER; MOLECULAR RECOGNITION; MUSCULAR DYSTROPHY; MYOPATHY; NEONATOLOGY; NEUROSCIENCE; PEDIATRICIAN; REVIEW; SPINAL MUSCULAR ATROPHY; THOMSEN DISEASE;

EID: 0344010538     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00066-4     Document Type: Review

References (122)

1. Conn P.M. Neuroscience in medicine. 1995;Lippincott, Philadelphia, PA.
2. Gordon J., Ghex C. Muscle receptors and spinal reflexes: the stretch reflex. Kandel E.R., Schwartz J.H. Principles of neural science. 2000;1414 McGraw Hill Health Professions Division, New York, NY.
3. Teddy P.J., Silver J.R., Baker J.H., Ohry A. Traumatic cerebral flaccid paraplegia. Paraplegia. 22:1984;320-324.
4. Richer L.P., Shevell M.I., Miller S.P. Diagnostic profile of neonatal hypotonia: an 11-year study. Pediatr Neurol. 25:2001;32-37.
5. Banker B.Q. Neuropathologic aspects of arthrogryposis multiplex congenita. Clin Orthop. 194:1985;30-43.
6. Banker B.Q. Arthrogryposis multiplex congenita: spectrum of pathologic changes. Hum Pathol. 17:1986;656-672.
7. Zellweger H. The floppy infant: a practical approach. Helv Paediatr Acta. 38:1983;301-306.
8. Maguire H.C., Sladky J.T. Diagnosis and management of diseases affecting the motor unit in infancy. RI Med J. 72:1989;361-366.
9. Dubowitz V. The floppy infant. 1980;Spastics International Medical Publications William Heinemann Medical Books, London.
10. Dubowitz V. Hypotonia in infancy. Acta Univ Carol Med Monogr. 75:1976;13-18.
11. Fremion A.S. Evaluation of the floppy infant, or congenital hypotonia. Indiana Med. 79:1986;680-681.
12. Gay C.T., Bodensteiner J.B. The floppy infant: recent advances in the understanding of disorders affecting the neuromuscular junction. Neurol Clin. 8:1990;715-725.
13. Crawford T.O. Clinical evaluation of the floppy infant. Pediatr Ann. 21:1992;348-354.
14. Bergen B.J. Evaluation of the hypotonic or floppy infant. Minn Med. 68:1985;341-347.
15. A complete set of human telomeric probes and their clinical application. Nat Genet. 14:1996;86-89.
16. Colleaux L., Rio M., Heuertz S., Moindrault S., Turleau C., Ozilou C., et al. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur J Hum Genet. 9:2001;319-327.
17. David W.S., Jones H.R. Jr. Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant. Muscle Nerve. 17:1994;424-430.
18. Darras B.T., Jones H.R. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 23:2000;289-300.
19. Engel A.E. 73rd. ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands. Neuromuscul Disord. 11:2001;315-321.
20. Engel A., Ohno K., Sine S. Congenital myasthenic syndromes. Engel A. Myasthenia gravis and myasthenic disorders. Contemporary neurology series. vol. 56:1999;251-297 Oxford University Press, New York, NY.
21. Saudubray J.M., Narcy C., Lyonnet L., Bonnefont J.P., Poll The B.T., Munnich A. Clinical approach to inherited metabolic disorders in neonates. Biol Neonate. 58:(Suppl 1):1990;44-53.
22. Miller S.P., Riley P., Shevell M.I. The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr. 134:1999;226-228.
23. Cassidy S.B., Dykens E., Williams C.A. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet. 97:2000;136-146.
24. Flint J., Wilkie A.O., Buckle V.J., Winter R.M., Holland A.J., McDermid H.E. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 9:1995;132-140.
25. Sismani C., Armour J.A., Flint J., Girgalli C., Regan R., Patsalis P.C. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet. 9:2001;527-532.
26. Phelan M.C., Rogers R.C., Saul R.A., Stapleton G.A., Sweet K., McDermid H., et al. 22q13 deletion syndrome. Am J Med Genet. 101:2001;91-99.
27. Darras B.T. Neuromuscular disorders in the newborn. Clin Perinatol. 24:1997;827-844.
28. Vitali T., Sossi V., Tiziano F., Zappata S., Giuli A., Paravatou-Petsotas M., et al. Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. Hum Mol Genet. 8:1999;2525-2532.
29. Lefebvre S., Burglen L., Frezal J., Munnich A., Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet. 7:1998;1531-1536.
30. Updated [Feb 2000] Prior T., Russman B. Spinal muscular atrophy. In Gene Reviews at GeneTests GeneClinics: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2003. 2003;. Available at http://www.geneclinics.org or http://www.genetests.org [accessed Jan 21st, 2003].
31. Crawford T.O., Sladky J.T., Hurko O., Besner-Johnston A., Kelley R.I. Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol. 45:1999;337-343.
32. Tein I., Sloane A.E., Donner E.J., Lehotay D.C., Millington D.S., Kelley R.I. Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? Pediatr Neurol. 12:(1):1995;21-30.
33. Mercuri E., Goodwin F., Sewry C., Dubowitz V., Muntoni F. Diaphragmatic spinal muscular atrophy with bulbar weakness. Europ J Paediatr Neurol. 4:2000;69-72.
34. Vuopala K., Makela-Bengs P., Suomalainen A., Herva R., Leisti J., Peltonen L. Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. J Med Genet. 32:1995;36-38.
35. Rudnik-Schoneborn S., Forkert R., Hahnen E., Wirth B., Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics. 27:1996;8-15.
36. Burglen L., Amiel J., Viollet L., Lefebvre S., Burlet P., Clermont O., et al. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest. 98:1996;1130-1132.
37. Greenberg F., Fenolio K.R., Hejtmancik J.F., Armstrong D., Willis J.K., Shapira E., et al. X-linked infantile spinal muscular atrophy. Am J Dis Child. 142:1988;217-219.
38. Kobayashi H., Baumbach L., Matise T.C., Schiavi A., Greenberg F., Hoffman E.P. A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Hum Mol Genet. 4:1995;1213-1216.
39. Frijns C.J., Van Deutekom J., Frants R.R., Jennekens F.G. Dominant congenital benign spinal muscular atrophy. Muscle Nerve. 17:1994;192-197.
40. Carroll J.E., Jedziniak M., Guggenheim M.A. Guillain-Barre syndrome. Another cause of the 'floppy infant'. Am J Dis Child. 131:1977;699-700.
41. al-Qudah A.A., Shahar E., Logan W.J., Murphy E.G. Neonatal Guillain-Barre syndrome. Pediatr Neurol. 4:1988;255-256.
42. Phadke M.A., Gambhir P.S., Deshpande A.S., Kurlekar S.U., Godbole K.G. Asian paralysis syndrome. Ann Trop Paediatr. 19:1999;317-320.
43. Tyson J., Ellis D., Fairbrother U., King R.H., Muntoni F., Jacobs J., et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain. 120:(Pt 1):1997;47-63.
44. Benstead T.J., Grant I.A. Progress in clinical neurosciences: Charcot-Marie-tooth disease and related inherited peripheral neuropathies. Can J Neurol Sci. 28:2001;199-214.
45. Kennedy W.R., Sung J.H., Berry J.F. A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. Arch Neurol. 34:1977;337-345.
46. Nelis E., Haites N., Van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat. 13:1999;11-28.
47. Roa B.B., Warner L.E., Garcia C.A., Russo D., Lovelace R., Chance P.F., et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-tooth disease. Hum Mutat. 7:1996;36-45.
48. Nelis E., Timmerman V., De Jonghe P., Vandenberghe A., Pham-Dinh D., Dautigny A., et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet. 94:1994;653-657.
49. Nelis E., Warner L.E., Vriendt E.D., Chance P.F., Lupski J.R., Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 4:1996;329-333.
50. Belasco C., Carbillon L., Louaib D., Gaudelus J., Uzan M. Neonatal myasthenia gravis (in French). Arch Pediatr. 7:2000;263-266.
51. Narchi H. The pediatric forum: neonatal hypermagnesemia: more causes and more symptoms. Arch Pediatr Adolesc Med. 155:2001;1074.
52. Rasch D.K., Huber P.A., Richardson C.J., L'Hommedieu C.S., Nelson T.E., Reddi R. Neurobehavioral effects of neonatal hypermagnesemia. J Pediatr. 100:1982;272-276.
53. Brown L.W. Differential diagnosis of infant botulism. Rev Infect Dis. 1:1979;625-629.
54. Middleton L.T. Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995. Neuromuscul Disord. 6:1996;133-136.
55. Engel A.G. Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes. J Neurol Neurosurg Psychiatry. 43:1980;577-589.
56. Dubowitz V. Congenital muscular dystrophy: an expanding clinical syndrome. Ann Neurol. 47:2000;143-144.
57. Flanigan K.M., Kerr L., Bromberg M.B., Leonard C., Tsuruda J., Zhang P., et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol. 47:2000;152-161.
58. Ullrich O. Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiteres Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. Z Ges Neurol Psychiatr. 126:1930;171-201.
59. Pegoraro E., Marks H., Garcia C.A., Crawford T., Mancias P., Connolly A.M., et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 51:1998;101-110.
60. Helbling-Leclerc A., Zhang X., Topaloglu H., Cruaud C., Tesson F., Weissenbach J., et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 11:1995;216-218.
61. Mackay M.T., Kornberg A.J., Shield L., Phelan E., Kean M.J., Coleman L.T., et al. Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. J Child Neurol. 13:1998;481-487.
62. Updated [Jan 2001] Hoffmann E., Scacheri C., Pegoraro E. Congenital muscular dystrophy overview. In GeneReviews at GeneTests GeneClinics: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2003. 2003;. Available at http://www.geneclinics.org or http://www.genetests.org [accessed Jan 21st, 2003].
63. Bethlem J., Wijngaarden G.K. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain. 99:1976;91-100.
64. Fukuyama Y., Osawa M., Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev. 3:1981;1-29.
65. Toda T., Kobayashi K. Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. J Mol Med. 77:1999;816-823.
66. Aravind L., Koonin E.V. The fukutin protein family - predicted enzymes modifying cell-surface molecules. Curr Biol. 9:1999;R836-R837.
67. Dobyns W.B., Pagon R.A., Armstrong D., Curry C.J., Greenberg F., Grix A., et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32:(2):1989;195-210.
68. Williams R.S., Swisher C.N., Jennings M., Ambler M., Caviness V.S. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology. 34:(12):1984;1531-1541 Beltran-Valero De Bernabe D., Currier S., Steinbrecher A., Celli J., Van Beusekom E., Van Der Zwaag B., et al. Mutations in the O-mannosyltransferase Gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 71:(5):2002;1033-1043.
69. Williams R.S., Swisher C.N., Jennings M., Ambler M., Caviness V.S. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology. 34:(12):1984;1531-1541 Beltran-Valero De Bernabe D., Currier S., Steinbrecher A., Celli J., Van Beusekom E., Van Der Zwaag B., et al. Mutations in the O-mannosyltransferase Gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 71:(5):2002;1033-1043.
70. Santavuori P., Somer H., Sainio K., Rapola J., Kruus S., Nikitin T., et al. Muscle-eye-brain disease (MEB). Brain Dev. 11:1989;147-153.
71. Cormand B., Avela K., Pihko H., Santavuori P., Talim B., Topaloglu H., et al. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet. 64:1999;126-135.
72. Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 1:2001;717-724.
73. Moore S.A., Saito F., Chen J., Michele D.E., Henry M.D., Messing A., et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 418:2002;422-425.
74. Camacho Vanegas O., Bertini E., Zhang R.Z., Petrini S., Minosse C., Sabatelli P., et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA. 98:2001;7516-7521.
75. Jobsis G.J., Boers J.M., Barth P.G., de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 122:1999;649-655.
76. Pepe G., de Visser M., Bertini E., Bushby K., Vanegas O.C., Chu M.L., et al. Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord. 12:2002;296-305.
77. Pepe G., Bertini E., Giusti B., Brunelli T., Comeglio P., Saitta B., et al. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord. 9:1999;264-271.
78. Pepe G., Giusti B., Bertini E., Brunelli T., Saitta B., Comeglio P., et al. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Commun. 258:1999;802-807.
79. Vanegas O.C., Zhang R.Z., Sabatelli P., Lattanzi G., Bencivenga P., Giusti B., et al. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Muscle Nerve. 25:2002;513-519.
80. Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med. 66:1973;219-220.
81. Moghadaszadeh B., Topaloglu H., Merlini L., Muntoni F., Estournet B., Sewry C., et al. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. Neuromuscul Disord. 9:1999;376-382.
82. Moghadaszadeh B., Petit N., Jaillard C., Brockington M., Roy S.Q., Merlini L., et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 29:2001;17-18.
83. Hidiroglou M., Jenkins K., Carson R.B., Brossard G.A. Selenium and coenzyme Q10 levels in the tissues of dystrophic and healthy calves. Can J Physiol Pharmacol. 45:1967;568-569.
84. Updated [Jan 2001] Adams C. Myotonic dystrophy. In GeneReviews at GeneTests GeneClinics: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2003. 2003;. Available at http://www.geneclinics.org or http://www.genetests.org [accessed Jan 21st 2003].
85. Reardon W., Newcombe R., Fenton I., Sibert J., Harper P.S. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child. 68:1993;177-181.
86. Bodensteiner J.B., Byler D.L., Jaynes M.E. The utility of the determination of CTG trinucleotide repeat length in hypotonic infants. Semin Pediatr Neurol. 6:1999;243-245.
87. Redman J.B., Fenwick R.G., Fu Y.H., Pizzuti A., Caskey C.T. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. J Am Med Assoc. 269:1993;1960-1965.
88. Tsilfidis C., MacKenzie A.E., Mettler G., Barcelo J., Korneluk R.G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet. 1:1992;192-195.
89. Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet. 16:1997;402-406.
90. Klesert T.R., Cho D.H., Clark J.I., Maylie J., Adelman J., Snider L., et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet. 25:2000;105-109.
91. Mankodi A., Takahashi M.P., Jiang H., Beck C.L., Bowers W.J., Moxley R.T., et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 10:2002;35-44.
92. Bodensteiner J. Congenital myopathies. Neurol Clin. 6:1988;499-518.
93. Goebel H.H., Warlo I.A. Surplus protein myopathies. Neuromuscul Disord. 11:2001;3-6.
94. Goebel H.H., Warlo I. Gene-related protein surplus myopathies. Mol Genet Metab. 71:2000;267-275.
95. Bornemann A., Goebel H.H. Congenital myopathies. Brain Pathol. 11:2001;206-217.
96. Zhang Y., Chen H.S., Khanna V.K., De Leon S., Phillips M.S., Schappert K., et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 5:1993;46-50.
97. 2+ release channel function and severe central core disease. Proc Natl Acad Sci USA. 96:1999;4164-4169.
98. 2+ release channels? Trends Cardiovasc Med. 12:2002;189.
99. McCarthy T.V., Quane K.A., Lynch P.J. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat. 15:2000;410-417.
100. Ryan M.M., Schnell C., Strickland C.D., Shield L.K., Morgan G., Iannaccone S.T., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 50:2001;312-320.
101. Sanoudou D., Beggs A.H. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med. 7:2001;362-368.
102. Laing N.G., Wilton S.D., Akkari P.A., Dorosz S., Boundy K., Kneebone C., et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 9:1995;75-79.
103. Pelin K., Hilpela P., Donner K., Sewry C., Akkari P.A., Wilton S.D., et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA. 96:1999;2305-2310.
104. Ilkovski B., Cooper S.T., Nowak K., Ryan M.M., Yang N., Schnell C., et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet. 68:2001;1333-1343.
105. Nowak K.J., Wattanasirichaigoon D., Goebel H.H., Wilce M., Pelin K., Donner K., et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 23:1999;208-212.
106. Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R., Koch T., et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 67:2000;814-821.
107. Tubridy N., Fontaine B., Eymard B. Congenital myopathies and congenital muscular dystrophies. Curr Opin Neurol. 14:2001;575-582.
108. Taylor G.S., Maehama T., Dixon J.E. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci USA. 97:2000;8910-8915.
109. Blondeau F., Laporte J., Bodin S., Superti-Furga G., Payrastre B., Mandel J.L. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet. 9:2000;2223-2229.
110. Herman G.E., Kopacz K., Zhao W., Mills P.L., Metzenberg A., Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 19:(2):2002;114-121.
111. Cui X., De Vivo I., Slany R., Miyamoto A., Firestein R., Cleary M.L. Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet. 18:(4):1998;331-337.
112. Bartholomeus M.G., Gabreels F.J., ter Laak H.J., van Engelen B.G. Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study. Clin Neurol Neurosurg. 102:(2):2000;97-101.
113. Imoto C., Nonaka I. The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders. Brain Dev. 23:(5):2001;298-302.
114. Clancy R.R., Kelts K.A., Oehlert J.W. Clinical variability in congenital fiber type disproportion. J Neurol Sci. 46:(3):1980;257-266.
115. Vorwerk P., Christoffersen C.T., Muller J., Vestergaard H., Pedersen O., De Meyts P. Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). Horm Res. 52:(5):1999;211-220.
116. Tsuji M., Higuchi Y., Shiraishi K., Mitsuyoshi I., Hattori H. Congenital fiber type disproportion: severe form with marked improvement. Pediatr Neurol. 21:(3):1999;658-660.
117. Gordon N. Benign congenital hypotonia. A syndrome or a disease. Dev Med Child Neurol. 8:(3):1966;330-335.
118. Thompson C.E. Benign congenital hypotonia is not a diagnosis. Dev Med Child Neurol. 44:(4):2002;283-284.
119. Shuper A., Weitz R., Varsano I., Mimouni M. Benign congenital hypotonia. A clinical study in 43 children. Eur J Pediatr. 146:(4):1987;360-364.
120. Carboni P., Pisani F., Crescenzi A., Villani C. Congenital hypotonia with favorable outcome. Pediatr Neurol. 26:(5):2002;383-386.
121. Tein I. Neonatal metabolic myopathies. Semin Perinatol. 23:(2):1999;125-151.
122. Dubowitz V. The floppy infant - a practical approach to classification. Dev Med Child Neurol. 10:(6):1968;706-710.