Clinical and genetic analysis of a family with PROMM

Journal of Clinical Neuroscience

Volumn 11, Issue 6, 2004, Pages 603-605

  Grewal, Raji P ^a,d   Zhang, Shanxiang ^b   Ma, Wei ^a   Rosenberg, Michael ^a   Krahe, Ralf ^c  

^a SETON HALL UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d New Jersey Neuroscience Institute   (United States)

Author keywords

genotype; myotonia; myotonic dystrophy type 2; phenotype; PROMM

Indexed keywords

ADULT; ARTICLE; BIOAVAILABILITY; CASE REPORT; CHROMOSOME 3Q; CLINICAL FEATURE; DISEASE ASSOCIATION; ELECTROPHYSIOLOGY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; INTRON; MALE; MYOPATHY; MYOTONIC DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; PROXIMAL MYOTONIC MYOPATHY; VESTIBULAR SYSTEM;

DNA MUTATIONAL ANALYSIS; DNA REPEAT EXPANSION; FAMILY HEALTH; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; MYOTONIC DISORDERS; RNA-BINDING PROTEINS;

EID: 3142720352     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2003.09.014     Document Type: Article

References (16)

1. Johnson K., Nimmo E., Jones P., et al. Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q. Hum. Genet. 80:1988;379-381
2. Brook J.D., McCurrach M.E., Harley H.G., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide repeat (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 68:1992;799-808
3. Thornton C.A., Griggs R.C., Moxley R.T. Myotonic dystrophy with no trinucleotide repeat expansion. Ann. Neurol. 35:1994;269-272
4. n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? J. Neurol. 243:1994;715-721
5. Ranum L.P.W., Rasmussen P.F., Benzow K.A., Koob M.D., Day J.W. Genetic mapping of a second myotonic dystrophy locus. Nat. Genet. 19:1998;196-198
6. Ricker K., Grimm T., Koch M.C., et al. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology. 52:1999;170-171
7. Liquori C.L., Ricker K., Moseley M.L., et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 293:2001;864-867
8. Moxley RT III, Udd B, Ricker K. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other Proximal Myotonic Syndromes, Naarden, The Netherlands, 10-12 October 1997. Neuromusc Disord 1998; 8: 508-518
9. Meola G. Myotonic dystrophies. Curr. Opin. Neurol. 13(5):2000;519-525
10. Udd B., Krahe R., Wallgren-Pettersson C., Falck B., Kalimo H. Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul. Disord. 7(4):1997;217-228
11. Meola G., Sansone V., Marinou K., et al. Proximal myotonic myopathy: a syndrome with a favourable prognosis? J. Neurol. Sci. 193(2):2002;89-96
12. Phillips M.F., Rogers M.T., Barnetson R., et al. PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. Neuromuscul. Disord. 8:1998;439-446
13. Day J.W., Ricker K., Jacobsen J.F., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 60:2003;657-664
14. Bassez G., Attarian S., Laforet P., et al. PROMM: clinical and histology study. Rev. Neurol. 157(2):2001;209-218
15. Sander H., Tavoulareas G., Chokroverty S. Heat-sensitive myotonia in proximal myotonic myopathy. Neurology. 47:1996;956-962
16. Sander H., Tavoulareas G., Quinto C., Menkes D., Chokroverty S. The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy. Muscle Nerve. 20:1997;235-237