Myoclonus-dystonia syndrome associated with Russell Silver syndrome

Movement Disorders

Volumn 28, Issue 6, 2013, Pages 841-842

  Augustine, Erika F ^a   Blackburn, Joanna ^b   Pellegrino, Joan E ^c   Miller, Ryan ^c   Mink, Jonathan W ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c State University of New York Upstate Medical University: College of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CEPHALOMETRY; CHILD; CHROMOSOME 7; CLINICAL EVALUATION; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; FACIES; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; FOCAL DYSTONIA; HUMAN; INVOLUNTARY MOVEMENT; LOSS OF FUNCTION MUTATION; MUSCLE HYPOTONIA; MYOCLONUS DYSTONIA; MYOCLONUS DYSTONIA SYNDROME; PRENATAL GROWTH; PRIORITY JOURNAL; SCHOOL CHILD; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

CHILD; DYSTONIC DISORDERS; FEMALE; HUMANS; SILVER-RUSSELL SYNDROME;

EID: 84879602154     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25483     Document Type: Article

References (5)

1. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding e{open}-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29:66-69.
2. Grabowski M, Zimprich A, Lorenz-Depiereux B, et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet. 2003;11:138-144.
3. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008;45:193-199.
4. Guettard E Portnoi MF, Lohmann-Hedrick K, et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol. 2008;65:1380-1385.
5. Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A. 2010;152A:2342-2345.