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Neuromuscular Disorders
Volume 16, Issue 6
, Pages 403-413
, June 2006
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
References
- . Myotonic dystrophy. 2nd ed. London: W.B. Saunders; 1989;
- . Myotonic dystrophy with no trinucleotide repeat expansion [see comments]. Ann Neurol. 1994;35(3):269–272
- Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology. 1994;44(8):1448–1452
- . Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes. Neuromuscul Disord. 1998;8(7):519–520
- . Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998;19(2):196–198
- . New nomenclature and DNA testing guidelines for myotonic dystrophy type 1. Neurology. 2000;54:1218–1221
- . Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?. Neuromuscul Disord. 1997;7(4):217–228
- Verification of DM2 (CCTG)n expansion mutation and a single shared haplotype among PROMM/PDM patients from different ethnic origins indicates ancestral founder effect. Am J Hum Gen. 2003;78:835–848
- Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293(5531):864–867
- . 84th ENMC: Proximal myotonic myopathy (PROMM) and other myotonic dystrophy like syndromes. Neuromuscul Disord. 2002;12:306–317
- 115th ENMC: DM2/PROMM and other myotonic dystrophies: 3rd workshop. Neuromuscul Disord. 2003;13:589–596
- Myotonic dystrophy type 2: human founder haplotype and consercation of the repeat tract. Am J Hum Genet. 2003;73:849–862
- Improvement of the diagnostic procedure in PROMM/DM2. Neurogenetics. 2004;5:55–59
- New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul Disord. 2004;14:274–283
- . An unrecognized cause of camptocormia: proximal myotonic myopathy. Presse Med. 2000;29(20):1121–1123
- . Hearing loss in myotonic dystrophy. Ann Neurol. 1988;23(2):202–203
- . Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain. 2004;127:1187–1868
- Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. Muscle Nerve. 2004;30:636–644
- Sudden cardiac death in myotonic dystrophy type 2. Neurology. 2004;63:2402–2404
- Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM1) and in PROMM/DM2. Neuromuscul Disord. 2003;13:813–821
- Glucose metabolism and dopamine PET correlate in a patient with myotonic dystrophy type 2 and parkinsonism. J Neurol Neurosurg Psychiatry. 2006;77:425–426
- Similar brain Tau pathology in DM2/PROMM and DM1/Steinert's disease. Neurology. 2005;65:1636–1638
- Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology. 2003;60:1854–1857
- Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol. 2003;54:760–768
- Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004;13:3079–3088
- A muscleblind knockout model for myotonic dystrophy. Science. 2003;302:1978–1980
- . Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004;74:793–804
- Effect of the [CCTG](n) repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta. 2005;December 6:[Epub ahead of print]
- Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem. 2004;279:13129–13139
- Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science. 2000;289:1769–1773
- A non-DM1, non DM2 multisystemic myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chr 15q22-24. Brain. 2004;127:1979–1992
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004;36:377–381[and supplementary web-based material]
☆ The ENMC consortium on myotonic dystrophy type 2 (=DM2/PROMM) held its 4th workshop in Naarden, The Netherlands, 20–22th March 2006. It was attended by 21 active participants from Finland, France, Germany, Italy, Spain, and the USA. The workshop opened with a memorial to honor the past pioneer in the field: Dr Kenneth Ricker and his extensive clinical work on DM2 and other myotonic disorders.
PII: S0960-8966(06)00097-6
doi: 10.1016/j.nmd.2006.03.010
© 2006 Elsevier B.V. All rights reserved.
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Neuromuscular Disorders
Volume 16, Issue 6
, Pages 403-413
, June 2006
