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.

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