Myotonic dystrophy: Clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation

Neurology

Volumn 42, Issue 1, 1992, Pages 203-208

  Mathieu, Jean ^a   Braekeleer, Marc De ^c   Prévost, Claude ^b   Boily, Camil ^a  

^a Clinique des maladies neuro musculaires ^*  (Canada)

^b Service de genetique humaine ^*  (Canada)

^c UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; AUTOSOMAL DOMINANT INHERITANCE; CANADA; CHROMOSOME 19; CLINICAL EXAMINATION; CONFERENCE PAPER; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOTONIC DYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; AGING; CHILD; DISABILITY EVALUATION; FEMALE; HUMAN; MALE; MIDDLE AGE; MUSCLES; MUTATION; MYOTONIC DYSTROPHY; SEX CHARACTERISTICS; SUPPORT, NON-U.S. GOV'T; TIME FACTORS;

EID: 0026556498     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.42.1.203     Document Type: Article

References (19)

1. Harper PS. Myotonic dystrophy. Philadelphia: WB Saunders, 1989.
2. Mathieu J, De Braekeleer M, Prevost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint- Jean area (Quebec, Canada). Neurology 1990;40:839-842.
3. Korneluk RG, Leblond S, Shutler G, Bailly J, Tsilfidis C, MacKenzie AE. Linkage disequilibrium between myotonic dystrophy (DM) and an extended chromosome 19 haplotype in French-Canadians [abstract], J Neurol Sci 1990;98(suppl):38.
4. Thibault MC, Lescault A, Moorjani S, Mathieu J, Laberge C. Myotonic dystrophy: high prevalence in the northeastern region of Quebec (Canada) and indications of molecular homogeneity [abstract], J Neurol Sci 1990;98(suppl):37.
5. Mathieu J, Simard M, De Braekeleer M. Partial syndrome of myotonic dystrophy: clinical presentation and follow-up. Can J Neurol Sci 1989;16:99-103.
6. Thibault MC, Mathieu J, Moorjani S, et al. Myotonic dystrophy: linkage with apolipoprotein E and estimation of the gene carrier status with genetic markers. Can J Neurol Sci 1989;16:134-140.
7. Perron M, Veillette S, Mathieu J. La dystrophie myotonique. Caracteristiques socio-economiques et residentielles des malades. Can J Neurol Sci 1989;16:109-113.
8. Veillette S, Perron M, Mathieu J. La dystrophie myotonique. Nuptialite, fecondite et transmission du gene. Can J Neurol Sci 1989;16:114-118.
9. Bouchard G, Roy R, Declos M, Mathieu J, Kouladjian K. Origin and diffusion of the myotonic dystrophy gene in the Saguenay region (Quebec). Can J Neurol Sci 1989;16:119- 122.
10. Young AB, Shoulson I, Penney JB, et al. Huntington’s disease in Venezuela: neurologic features and functional decline. Neurology 1986;36:244-249.
11. Caughey JE, Myrianthopoulos NC. Dystrophia myotonica and related disorders. Springfield, IL: CC Thomas, 1963.
12. Thomasen E. Myotonia. Denmark: Aarhuus Stifs- bogtrykkerie, 1948.
13. Gillam PMS, Heaf PJD, Kaufman L, Lucas BGB. Respiration in dystrophia myotonica. Thorax 1964;19:112- 120.
14. Harper PS. Congenital myotonic dystrophy in Britain. 2. Genetic basis. Arch Dis Child 1975;50:514-521.
15. Laberge C. Myotonic dystrophy in Quebec: geographical distribution and concept of genetic homogeneity. Can J Neurol Sci 1989;16:123-128.
16. Bundey S. Clinical evidence for heterogeneity in myotonic dystrophy. J Med Genet 1982;19:341-348.
17. Harper PS. The myotonic disorders. In: Walton J, ed. Disorders of voluntary muscles. Edinburg: Churchill Livingstone, 1988:569-587.
18. Myers RH, Vonsattel JP, Stevens TJ, et al. Clinical and neu- ropathologic assessment of severity in Huntington’s disease. Neurology 1988;38:341-347.
19. Currier RD, Jackson JF, Meydrech EF. Progression rate and age at onset are related in autosomal dominant neurologic diseases. Neurology 1982;32:907-909.