Linkage of proximal myotonic myopathy to chromosome 3q

Neurology

Volumn 52, Issue 1, 1999, Pages 170-171

  Ricker, K ^b   Grimm, T ^c   Koch, M C ^c   Schneider, C ^c   Kress, W ^c   Reimers, C D ^c   Schulte Mattler, W ^c   Mueller Myhsok, B ^a   Toyka, K V ^c   Mueller, C R ^c  

^a BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^b NONE   (Germany)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 3Q; CLINICAL ARTICLE; DISEASE CLASSIFICATION; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; GERMANY; HUMAN; MALE; MYOTONIA; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0032923704     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.1.170     Document Type: Article

References (10)

1. Thornton CA, Griggs RC, Moxley RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35: 269-272.
2. Ricker K, Koch M, Lehmann-Horn F, et al. Proximal myotonic myopathy a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
3. 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.
4. Meola RT, Sansone V, Radice S, et al. A family with unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 1996;6:143-150.
5. Hund E, Jansen O, Koch M, et al. Proximal myotonic myopathy with MRI white-matter abnormalities of the brain. Neurology 1997;48:33-37.
6. Ranum LPW, Rasmussen PF, Benzow KA, et al. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19: 196-198.
7. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993;328:471-475.
8. Terwilliger JD, Ott J. Handbook of human genetic linkage. Baltimore: The Johns Hopkins University Press, 1994.
9. 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: 715-721.
10. Udd B, Krahe R, Wallgren-Pettersson C, et al. Proximal myotonic dystrophy - a family with proximal muscular dystrophy, myotonia, cataracts and hearing loss. Heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.