Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-022-00698-1.pdf
Reference15 articles.
1. Suter U, Welcher AA, Ozcelik T et al (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241–244
2. Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R (1997) Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve 20:97–99
3. Suter U, Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4:714–726
4. Baets J, Deconinck T, De Vriendt E et al (2011) Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 134:2664–2676
5. Hobbelink SMR, Brockley CR, Kennedy RA et al (2018) Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. Brain Behav 8:e00919
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