1. Ricker K, Koch MC, Lehmann-Horn F, et al: Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31

2. Ricker K, Koch MC, Lehmann-Horn F, et al: Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452

3. Johnsen T: Familial periodic paralysis with hypokalaemia. Dan Med Bull 1981;28:1-27

4. Becker PE: Myotonia congenita and syndromes associated with myotonia. Stuttgart, Thieme, 1977

5. Ptacek LJ, Tawil R, Griggs RC, et al: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994;44:1500-1503.

6. Ricker K, Moxley RT, Heine R, Lehmann-Horn F: Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-1102

7. Lerche H, Heine R, Pica U, et al: Human sodium channel myotonia: Slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol 1993;470:13-22

8. Zhang J, George AL, Griggs RC, et al: Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996;47:993-998

9. Fouad G, Dalakas M, Servidei S, et al: Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. NeuromusculDisord, 1997;7:33-38

10. Spaans F, Theunissen P, Reekers AD, et al: Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies. Muscle Nerve 1990;13:516-527

11. Griggs RC, Bender AN, Tawil R: A puzzling case of periodic paralysis. Muscle Nerve 1996;19:362-364

12. Streib EW: AAEE minimonograph No. 27: Differential diagnosis of myotonic syndromes. Muscle Nerve 1987;10:603

13. Aminoff MJ, Layzer RB, Satya-Murti S, Faden AI: The declining electrical response to muscle to repetitive nerve stimulation in myotonia. Neurology 1977;27:812-816

14. Griggs RC, Mendell JR, Miller RG: Periodic paralysis and myotonia. In Griggs RC, Mendell JR, Miller RG (eds): Evaluation and Treatment of Myopathies. Philadelphia, F.A. Davis, 1995, pp 318-3 54.

15. Laing NG, Wilton SD, Akkari PA, et al: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995;9:75-79

16. Wallgren-Pettersson C, Avela K, Marchand S, et al: A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord 1995;5:441-443

17. Barth PG, Van Wijngaarden GK, Bethlem J: X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 1975;25:531-536

18. Laporte J, Hu LJ, 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;13:175-182

19. Kausch K, Lehmann-Horn F, Janka M, et al: Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991;10:765-769

20. Zhang Y, Chen HS, Khanna VK, et al: A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993;5:46-50

21. Brooke MH: A neuromuscular disease characterised by fiber type disproportion. In Kakulas BA (ed): Clinincal Studies in Myology. Proceedings of the Second International Congress on Muscle Diseases, Perth, Australia. Amsterdam, Excerpta Medica, 1973

22. Dubowitz V: The congenital myopathies. In Dubowitz V (ed): Muscle Disorders in Childhood, 2nd ed. London, W.B. Saunders, 1995, pp 134-17 6.

23. Iles DE, Lehmann-Horn F, Scherer SW, et al: Localisation of the gene encoding the a2/d-subunits of the L-type voltage dependent calcium channel to chromosome 7q and the analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 1994;3:969-975

24. Sudbrak P, Procaccio V, Klausnitzer M, et al: Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 1995;56:684-691

25. Britt BA: Malignant hyperthermia. In Lane RJM (ed): Handbook of Muscle Disease. New York, Marcel Dekker, 1996, pp 451-47'.

26. Hopkins PM, Halsall PJ, Ellis FR: Diagnosing malignant hyperthermia susceptibility. Anaesthesia 1994;49:373-375

27. Brody I: Muscle contracture induced by exercise: A syndrome attributable to decreasing relaxing factor. n Engl J Med 1969;281:187-192

28. Hiel JAP, Jongen PJH, Poels PJE, et al: Sarcoplasmic reticulum Ca 2+ -adenosine triphosphatase deficiency (Brody's disease). In Lane rjm (ed): Handbook of Muscle Disease. New York, Marcel Dekker, 1996, pp 473-478.

29. Vincent A, Newland C, Croxen R, Beeson D: Genes at the junction-candidates for congenital myasthenic syndromes. Trends Neurosci 1997;20:15-22

30. Middleton LT: Congenital myasthenic syndromes. Neuromuscul Disord 1996;6:133-136

31. Engel AC: Congenital myasthenic syndromes. In Engel AC, Franzini-Armstrong C (eds): Myology, 2nd ed. New York, McGraw Hill, 1994, pp 1806-183 5.

32. Palace J, Wiles CM, Newsom-Davis J: 3,4-Diaminopyridine in the treatment of congenital (hereditary) myasthenia. J Neurol, Neurosurg Psychiatry 1991;54:1069-1072

33. Ii S, Sommer SS: The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Hum Mol Genet 1993;2:1303-1305

34. Reilly MM, Staunton H, Harding AE: Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: A clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 1995;59:45-49

35. Dwulet FE, Benson MD: Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest 1986;78:880-886

36. Nichols WC, Liepnieks JJ, McKusick VA, Benson MD: Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics 1989;5:535-540

37. de la Chapelle A, Tolvanen R, Boysen G, et al: Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet 1992;2:157-160

38. Levy E, Haltia M, Fernandez-Madrid I, et al: Mutation in gelsolin gene in Finnish hereditary amyloidosis. JExperMed 1990;172:1865- 1867

39. Skinner M, Lewis WD, Jones LA, et al: Liver transplantation as a treatment for familial amyloidotic polyneuropathy. Ann Intern Med 1994;120:133-134

40. Holmgren G, Ericzon BG, Groth CG, et al: Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993;341:1113-1116

41. Regnault V, Costa PM, Teixeira A, et al: Specific removal of transthyretin from plasma of patients with familial amyloidotic polyneuropathy: Optimization of an immunoadsorption procedure. Int J Artif

Organs 1992;15:249-255

42. Dyck PJ, Chance P, Lebo R, Carney JA: Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PK (eds): Peripheral Neuropathy. Philadelphia, W.B. Saunders, 1993, pp 1094-113 6.

43. Carpenter S, Karpati G, Andermann F, Gold R: Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. Arch Neurol 1974;31:312-316

44. Browne DL, Brunt ER, Griggs RC, et al: Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 1995;4:1671-1672

45. Hart IK, Newsom-Davis J: Neuromyotonia (Isaac's syndrome). In Lane RJM (ed): Handbook of Muscle Disease. New York, Marcel Dekker, 1996, pp 355-36 3.

Peripheral Neuropathy Natural Treatment Options

Peripheral Neuropathy Natural Treatment Options

This guide will help millions of people understand this condition so that they can take control of their lives and make informed decisions. The ebook covers information on a vast number of different types of neuropathy. In addition, it will be a useful resource for their families, caregivers, and health care providers.

Get My Free Ebook

Post a comment