Associated Papers
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.
Duan X et al.
Frontiers in Aging Neuroscience, 2016
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
Kilfoyle DH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2006
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Seeman P et al.
Neurology, 2004
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Santoro L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Azzedine H et al.
Neuromuscular Disorders : Nmd, 2003
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