Myoclonus in a patient with a deletion of the ?-sarcoglycan locus on chromosome 7q21
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference34 articles.
1. Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases
2. β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
3. ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2D
4. A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis
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1. Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature;Journal of Pediatric Genetics;2021-11-02
2. Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction;Movement Disorders;2019-08-26
3. Psychiatric disorders, myoclonus dystonia and SGCE : an international study;Annals of Clinical and Translational Neurology;2015-11-20
4. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype;Journal of Neurology;2014-09-11
5. Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria;Movement Disorders;2013-05-15
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