Proximal myotonic dystrophy - A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?

Neuromuscular Disorders

Volumn 7, Issue 4, 1997, Pages 217-228

  Udd, Bjarne ^a   Krahe, Ralf ^b   Wallgren Pettersson, Carina ^b,c   Falck, Björn ^d   Kalimo, Hannu ^e  

^a VAASA CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c FOLKHÄLSAN RESEARCH CENTER   (Finland)

^d UPPSALA UNIVERSITY   (Sweden)

^e UNIVERSITY OF TURKU   (Finland)

Author keywords

Cataracts; Clinical findings; Deafness; Muscular dystrophy; Myotonia; Proximal

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; SODIUM; SODIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 19Q; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEARING LOSS; HUMAN; HUMAN TISSUE; HYPOGONADISM; MALE; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; ONSET AGE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; AGED; ARTERIOSCLEROSIS; CARDIOVASCULAR DISEASES; CATARACT; FEMALE; GENES, DOMINANT; HEARING LOSS; HUMANS; HYPOGONADISM; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; MYOTONIC DYSTROPHY; PEDIGREE; SYNDROME;

EID: 0031000214     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00041-2     Document Type: Article

References (35)

1. Harper PS. Myotonic Dystrophy, 2nd edn. London: WB Saunders, 1989.
2. Brook JD, Mc Currach ME, Harley GH, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
3. Fu Y, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;225:1256-8.
4. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;225:1253-5.
5. Ashizawa T, Dubel JR, Dunn PW, et al. Anticipation in myotonic dystrophy. II Complex relationships between clinical findings and structure of GCT repeat. Neurology 1992;42:1877-83.
6. Ricker K, Koch M, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-52.
7. Thornton, CA, Griggs, RC, Moxley, RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-2.
8. Rowland, LP. Thornton-Griggs-Moxley disease: myotonic dystrophy type 2. Ann Neurol 1994;36:803-4.
9. Stoll G, v Giesen H-J, Koch M, et al. Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansion. Muscle Nerve 1995;18:782-3.
10. Ricker K, Koch M, Lehmann-Horn F, et al. Proximal myotonic myopathy - clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
11. Meola G, Sansone V, Radice S, et al. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (Proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromusc Disord 1996;6:143-50.
12. Abbruzzese C, Krahe R, Liguori M, et al. Myotonic dystrophy phenotype without expansion of (CTG)n repeat, distinct from proximal myotonic myopathy (PROMM). J Neurol 1996;243:715-21.
13. Moxley, RT. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord 1996;6:87-93.
14. Cuthbert JA, Lipsky PE. Identification of low density lipoprotein receptor abnormalities by assaying functional receptors on proliferating lymphocytes. Arteriosclerosis 1989;9(Suppl l):I-43-I-49.
15. Dubowitz V. Muscle Biopsy: A Practical Approach, 2nd edn. New York: Cold Spring Harbor Laboratory Press, 1988.
16. Shelbourne P, Winqvist R, Kunert E, et al. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet 1992;1:467-73.
17. Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989;86:4175-8.
18. Weeks DJ, Ott J, Lathorp GM. SILINK: a general simulation program for linkage analysis. Am J Hum Genet 1990;47:A204.
19. Ptacek, LJ, Johnson, KJ, Griggs, RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993;328:482-9.
20. McClatchey AI, Trofatter J, McKenna-Yasek D, et al. Dinucleotide repeat polymorphism at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet 1992;50:896-901.
21. Abdalla JA, Casley WL, Cousin HK, et al. Linkage of Thomsen disease to the T-cell receptor beta (TCRB) locus on chromosome 7q35. Am J Hum Genet 1992;51:579-84.
22. Church SC. The hearth in myotonia atrophica. Arch Intern Med 1967;119:176-81.
23. Rönnemaa T, Alavirta H, Viikari J, et al. Increased activity of serum gamma-glutamyltransferase in myotonic dystrophy. Acta Med Scand 1987;222:267-73.
24. Avrahami E, Katz A, Birnstein N, et al. Computer tomographic findings of brain and skull in myotonic dystrophy. J Neurol Neurosurg Psychiat 1987;50:435-8.
25. Kuhn E, Ey W. Innenohrschwerhörigkeit bei Dystrophia myotonica und Dystrophia muscularis progressiva. Dtsch med Wschr 1966;91:947-51.
26. Verhagen, WIM, ter Bruggen, JP, Huygen, PLM. Oculomotor, auditory, and vestibular responses in myotonic dystrophy. Arch Neurol 1992;49:954-60.
27. Huygen, PLM, Verhagen, WIM, Noten, JFP. Auditory abnormalities, including 'precocius presbyacusis' in myotonic dystrophy. Audiology 1994;33:73-84.
28. Junge, J. Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita. Doc Ophtalmol 1966;21:1-115.
29. Klein D. La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) en Suisse. J Genet Hum 1958;7(Suppl):1-328.
30. Sagel, J, Distiller, LA, Morley, JE, Issacs, H. Myotonia dystrophica: studies on gonadal function using luteinizing hormone-releasing hormone (LRH). J Clin Endocrinol Metabol 1975;40:1110-3.
31. Kilburn, KH, Eagen, JT, Heyman, A. Cardiopulmonary insufficiency associated with myotonic dystrophy. Am J Med 1959;26:929-35.
32. Sander, H, Tavorulareas, G, Chokorovitj, S. Heat-sensitive myotonia in proximal myotonic myopathy. Neurology 1996;47:956-62.
33. Bushby, K. Workshop Report: Report on 12th ENMC sponsored international workshop - The 'Limb-girdle' Muscular Dystrophies. Neuromusc Disord 1992;2:3-5.
34. Padberg, GW, Lunt, PW, Koch, M, Fardeau, M. Workshop report: Diagnostic criteria for Facioscapulohumeral Muscular Dystrophy. Neuromusc Disord 1991;1:231-4.
35. Chen AH, Ni L, Fukushima K, et al. Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum Mol Genet 1995;4:1073-6.