Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review
Author:
Affiliation:
1. Department of Neurology Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5659
Reference24 articles.
1. GNE myopathy: A prospective natural history study of disease progression
2. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
3. Identification of aGNEhomozygous mutation in a Han-Chinese family with GNE myopathy
4. Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy
5. Motor axonal neuropathy associated with GNE mutations;Grecu N;Muscle Nerve,2020
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3. Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle;Journal of Neuromuscular Diseases;2023-09-08
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