Myotonic dystrophy with no trinucleotide repeat expansion

Annals of Neurology

Volumn 35, Issue 3, 1994, Pages 269-272

  Thornton, Charles A ^a,b   Griggs, Robert C ^a,b   Moxley, Richard T ^a,b  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; REPETITIVE DNA; TRINUCLEOTIDE;

ADULT; ALOPECIA; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; HEART MUSCLE CONDUCTION DISTURBANCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; TESTIS ATROPHY;

ADULT; CASE REPORT; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMAN; MALE; MIDDLE AGE; MUSCLES; MYOTONIC DYSTROPHY; OLIGODEOXYRIBONUCLEOTIDES; PROTEIN KINASES; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028334933     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.410350305     Document Type: Article

References (27)

1. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
2. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
3. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene
4. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
5. Relationship between parental trinucleotide CTG repeat length and severity of myotonic dystrophy in offspring
6. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
7. Presymptomatic diagnosis of myotonic dystrophy
8. Minimal expression of myotonic dystrophy: a clinical and molecular analysis
9. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
10. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
11. Direct diagnosis of myotonic dystrophy with a disease‐specific DNA marker
12. Myotonic dystrophy: size‐ and sex‐dependent dynamics of CTG meiotic instability, and somatic mosaicism
13. Unstable DNA sequence in myotonic dystrophy
14. Expansion of the myotonic dystrophy gene in Italian and Spanish patients
15. Generalized non‐dystrophic myotonia. The dominant (Thomsen) type and the recently identified recessive type
16. Syndromes associated with myotonia: clinical‐genetic classification
17. Myotonic syndromes other than myotonic dystrophy
18. Genetics and physiology of the myotonic disorders
19. Myotonic muscular dystrophy
20. Decreased expression of myotonin‐protein kinase messenger RNA and protein in adult form of myotonic dystrophy
21. Fragile X syndrome without CCG amplification has an FMR1 deletion
22. A point mutation in the FMR‐1 gene associated with fragile X mental retardation
23. Identical point mutations of PMP‐22 in Trembler‐J mouse and Charcot‐Marie‐Tooth disease type 1A
24. 0 gene
25. X‐linked neuropathy: gene localization with DNA probes
26. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction