Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S et al.
Internal Medicine (tokyo, Japan), 2022
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Nishikura N et al.
Brain & Development, 2019
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