Myotonic dystrophy type 2

European Journal of Neurology

Volumn 9, Issue 5, 2002, Pages 441-447

  Finsterer, J ^a,b  

^a Krankenhaus Hietzing mit Neurologischem Zentrum Rosenhugel   (Austria)

^b NONE   (Austria)

Author keywords

Multisystem disease; Muscular dystrophy; Myopathy; Myotonia; Neuromuscular disorder

Indexed keywords

BARBITURIC ACID DERIVATIVE; BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; CORTICOSTEROID; MEXILETINE; NEUROMUSCULAR DEPOLARIZING AGENT; NONSTEROID ANTIINFLAMMATORY AGENT; OPIATE DERIVATIVE; PHENYTOIN; QUININE SULFATE;

BRAIN DYSFUNCTION; CATARACT; CHROMOSOME 3Q; CLINICAL FEATURE; DISEASE CLASSIFICATION; DNA DETERMINATION; ENDOCRINE DISEASE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; HEART DISEASE; HUMAN; INTRON; LABORATORY TEST; MORBIDITY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 2; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RESPIRATION DEPRESSION; REVIEW; ZNF9 GENE;

ANTI-INFLAMMATORY AGENTS; HUMANS; MUSCLE, SKELETAL; MUTATION; MYOTONIC DYSTROPHY; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 0036049412     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-1331.2002.00453.x     Document Type: Review

References (47)

1. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)
2. AFM/MDA 1st International Myotonic Dystrophy Consortium Conference, 30 June)1 July 1997, Paris, France
3. Proximal myotonic myopathy (PROMM): Clinical and histology study
4. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
5. Proximal myotonic myopathy (PROMM)
6. Proximal myotonic myopathy: Clinical neuropathologic, and molecular genetic features
7. Proximal myotonic myopathy: Report of three families
8. Hypothyroidism unmasking proximal myotonic myopathy (PROMM)
9. A patient with muscle pain after a journey to the tropics. Myocardial involvement in proximal myotonic myopathy
10. Proximal myotonic myopathy with MRI white matter abnormalities of the brain
11. Proximal myotonic myopathy: Clinical, electrophysiological and pathological findings in a family
12. Myotonic dystrophy: Molecular windows on a complex etiology
13. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
14. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
15. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
16. Muscle-blind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
17. Myotonic dystrophies - How many are there?
18. Dominantly inherited proximal myotonic myopathy and leucencephalopathy in a family with an incidental CLCN1 mutation
19. Clinical and genetic heterogeneity in myotonic dystrophies
20. A newly described myotonic disorder (proximal myotonic myopathy - PROMM): Personal experience and review of the literature
21. A family with an unusual myotonic and myopathic phenotype and no CTG-expansion (proximal myotonic myopathy syndrome): A challenge for future molecular studies
22. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
23. Proximal myotonic myopathy (PROMM) five-year follow-up study. A relatively benign disorder?
24. Dominant multi-system proximal myotonic myopathy syndromes: Clinical and genetic heterogeneity in three families
25. Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
26. Insulin resistance in proximal myotonic myopathy (PROMM)
27. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes - Workshop report
28. Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy
29. PROMM: The expanding phenotype. A family with proximal myopathy, myotonia and deafness
30. Genetic mapping of a second myotonic dystrophy locus
31. Myotonic dystrophy and proximal myotonic myopathy
32. Linkage of proximal myotonic myopathy to chromosome 3q
33. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
34. Proximal myotonic myopathy - Clinical features of a multisystem disorder similar to myotonic dystrophy
35. Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2
36. Heat-sensitive myotonia in proximal myotonic myopathy
37. The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy
38. Hypothyroidism unmasking proximal myotonic myopathy
39. Anticipation in proximal myotonic myopathy
40. Proximal myotonic myopathy. Analysis of 3 Swedish cases
41. Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions
42. Proximal myotonic myopathy: Clinical and molecular investigation of a Norwegian family with PROMM
43. Myotonic dystrophy with no trinucleotide repeat expansion
44. No evidence that proximal myotonic myopathy (PROMM) is associated with an expanded CTG/CAG repeat
45. Proximal myotonic dystrophy - A family with autosomal dominant muscular dystrophy, cataracts, hearing loss, and hypogonadism: Heterogeneity of proximal myotonic disorders
46. Cardiac involvement in proximal myotonic myopathy
47. A family with PROMM not linked to the recently mapped PROMM locus DM2