Phenotypic variability in rippling muscle disease

Neurology

Volumn 52, Issue 7, 1999, Pages 1453-1459

  Vorgerd, Matthias ^a,b   Bolz, H ^c   Patzold, T ^a   Kubisch, C ^c   Malin, J P ^a   Mortier, W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; MALE; MUSCLE CRAMP; MUSCLE DISEASE; MUSCLE STIFFNESS; MUSCLE STRETCHING; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033594454     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.7.1453     Document Type: Article

References (17)

1. Torbergsen T. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita Thomsen. Acta Neurol Scand 1975;51:225-232.
2. Ricker K, Moxley RT, Rohkamm R. Rippling muscle disease. Arch Neurol 1989;48:405-408.
3. Burns RJ, Bretag AJ, Blumbergs PC, Harbord MG. Benign familial disease with muscle mounding and rippling. J Neurol Neurosurg Psychiatry 1994;57:344-347.
4. Stephan DA, Buist NRM, Chittenden AB, et al. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology 1994;44:1915-1920.
5. Alberca R, Rafel E, Castilla JM, Gil-Peralta A. Increased mechanical muscle irritability syndrome. Acta Neurol Scand 1980;62:250-254.
6. Rao KR, Hafford JM, Grunnet M, Greenstein M. Electrically silent muscle contractions, myoedema and myopathy. Electroencephalogr Clin Neurophysiol 1987;66:S85.
7. Dew MS, Verma A, Lombardo M, et al. Electromyographic variability and pathology of rippling muscle disease. Neurology 1995;45(suppl 4):A447.
8. Ansevin CF, Agamanolis DP. Rippling muscles and myasthenia gravis with rippling muscles. Arch Neurol 1996;53:197-199.
9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
10. The Genome Database: Conference Paper Stephan, DA SCW1: 1995; 1998; World Wide Web URL: http://www.hgmp.mrc. ac.uk/gdb-bin/genera/genera/citation/DBObject?! key = CIT: 636582
11. Lathrop GM, Lalouel JM, Ott J. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-465.
12. The Genome Database; Contig Map 1q41-43 Content Contig; 1998; World Wide Web URL: http://tantalum.hgmp.mrc.ac.uk/ gdb-bin/genera/genera/hgd/Map?GDB:3925820
13. 31P-MRS. Neuromuscul Disord 1998;8:480-488.
14. Taylor DJ, Kemp GJ, Radda GK. Bioenergetics of skeletal muscle in mitochondrial myopathy. J Neurol Sci 1994;127: 198-206.
15. Franzini-Armstrong C. The sarcoplasmic reticulum and the transverse tubules. In: Engel AG, Franzini-Armstrong C, eds. Myology, vol. 1. 2nd ed. New York, NY: McGraw-Hill, 1994: 176-199.
16. Brody I. Muscle contracture induced by exercise: a syndrome attributable to decreased relaxing factor. N Engl J Med 1969; 281:187-192.
17. 2+ homeostasis in Brody's disease. J Clin Invest 1994;94:741-748.