Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

Neuromuscular Disorders

Volumn 8, Issue 7, 1998, Pages 519-520

  Moxley III, R T ^a   Udd, B ^a   Ricker, K ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CONFERENCE PAPER; HUMAN; MYOTONIA; MYOTONIC DYSTROPHY; PRIORITY JOURNAL;

EID: 0031763913     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00086-8     Document Type: Conference Paper

References (12)

1. 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.
2. Thornton, C.A., Griggs, R.C., Moxley, R.T. Myotonic dystrophy with no trinucleotide repeat expansion. Annal Neurol 1994; 35: 269-272.
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, 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: 143-150.
5. Moxley, R.T. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord 1996; 6: 87-93.
6. Udd, B., Krahe, R., Wallgren-Pettersson, C., Falck, B., Kalimo, H. Proximal myotonic dystrophy – a family with proximal muscular dystrophy, myotonia, cataracts and hearing loss. Heterogeneity of proximal myotonic syndromes? Neuromusc Disord 1997; 7: 217-228.
7. 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.
8. Hund, E., Jansen, O., Koch, M., et al. Proximal myotonic myopathy with MRI white-matter abnormalities of the brain. Neurology 1997; 48: 33-37.
9. Sansone, V., Cappa, S., Cotelli, Rognone, F., Thornton, C., Moxley, R. Magnetic resonance imaging and cognitive alterations in proximal myotonic myopathy (PROMM). Neurology 1997; 48: (Suppl.) A231.
10. Moxley, R., Sansone, V., Lifton, A., Thornton, C. Insulin resistance in proximal myotonic myopathy (PROMM). Neurology 1997; 48: (Suppl.) A229.
11. Griggs, R., Sansone, V., Lifton, A., Moxley, R. Hypothyroidism unmasking proximal myotonic myopathy (PROMM). Neurology 1997; 48: (Suppl.) A267.
12. Ranum, L.P.W., Rasmussen, P.F., Benzow, K.A., Koob, M.D., Day, J.W. Genetic mapping of a second myotonic dystrophy locus. Nature Genet 1998;19:196-198.