5
Views
0
CrossRef citations to date
0
Altmetric
Research Article

The myopathology of floppy and hypotonic infants in Singapore

&
Pages 409-413 | Published online: 06 Jul 2009

References

  • Lee Y-S. Muscle diseases in Singapore. Pathology 1986; 18: 35–40.
  • Histological and Histochemical Stains and Reactions. In: Dubowitz V, editor. Muscle Biopsy: a practical approach. 2nd edn. Bailliere Tindall, 1985.
  • Diseases of the lower motor neurone. In: Dubowitz V, editor. Muscle Biopsy: a practical approach. 2nd edn. Bailliere Tindall, 1985.
  • Kingma DW, Feeback DL, Marks WA, et al. Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy. J Child Neurol 1991; 6: 329–34.
  • Schmalbruch H, Haase G. Spinal muscular atrophy: present state. Brain Pathol 2001; 11: 231–47.
  • Voit T. Congenital muscular dystrophies: 1997 update. Brain Dev 1998; 20: 65–74.
  • Guicheney P, Vignier N, Helbing-Leclerc A, et al. Genetics of laminin alpha 2 chain (or merosin) deficiency congential muscular dystrophy from identification of mutations to prenatal diagnosis. Neuromusc Disord 1998; 7: 180–6.
  • Kobayashi K, Nakahori Y, Mikaze M, et al. An ancient retro-transposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388–92.
  • Hayashi YK, Chou FL, Engvall E. Mutations in the integrin alpha-7 gene cause congenital myopathy. Nat Genet 1998; 19: 94–7.
  • Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin 2000; 18: 151–65.
  • Laporte J, Ju Li, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996; 13: 175–82.
  • Spiro Ai, Shy GM, Gonatas NK. Myotubular myopathy. Arch Neurol 1966; 14: 1–14.
  • Laporte J, Kress W, Mandel JL. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol 2001; 50: 42–6.
  • Engel WK, Gold GN, Karpati G. Type I fibre hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experi- mental model. Arch Neurol 1968; 18: 43514.
  • Avila G, O'Brien ii, Dirksen RT. Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Proc Natl Acad Sci USA 2001; 98: 4215–20.
  • McCarthy TV, Quane KA, Lynch Pi. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15: 410–7.
  • Gurgel-Giannetti J, Reed U, Bang M, et al. Nebulin expression in patients with nemaline myopathy. Neuromusc Discord 2001; 11: 154–62.
  • Ilkovski B, Cooper ST, Nowak K, et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet 2001; 68: 1333–43.
  • Brooke MH. Congenital fiber type disproportion. In: Kakulas BA, editor. Clinical Studies in Myology, Proceedings of the Second International Congress on Muscle Diseases, Perth, Australia, November 1971, ICS No 295. Amsterdam: Excerpta Medica, 1971; 147–59.
  • Danon MJ, Giometti CS, Manaligod JR, et al. Sequential muscle biopsy changes in a case of congenital myopathy. Muscle Nerve 1997; 20: 561–9.
  • Bartholomeus MG, Gabreels FJ, ter Laak Hi, et al. Congenital fibre type disproportion a time-locked diagnosis: a clinical and morpho-logical follow-up study. Clin Neurol Neurosurg 2000; 102: 97–101.
  • The congenital myopathies. In: Dubowitz V, editor. Muscle Biopsy: a practical approach. 2nd edn. Bailliere Tindall, 1985.
  • Tsujino S, Nonaka I, DiMauro S. Glycogen storage myopathies. Neurol Clin 2000; 18: 125–50.
  • Comi GP, Fortunato F, Lucchiari S, et al. p-Enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol 2001; 50: 202–7.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.