Cargando…
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of...
Autores principales: | Ho, Kwo Wei David, Jerath, Nivedita U. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323496/ https://www.ncbi.nlm.nih.gov/pubmed/30675404 http://dx.doi.org/10.1155/2018/2618071 |
Ejemplares similares
-
The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved
por: Record, Christopher J., et al.
Publicado: (2023) -
Reply to Record et al. “The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved”
por: Stefanski, Katherine M., et al.
Publicado: (2023) -
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
por: Hong, Young Bin, et al.
Publicado: (2016) -
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
por: van Paassen, Barbara W, et al.
Publicado: (2014) -
How T118M peripheral myelin protein 22 predisposes humans to Charcot–Marie–Tooth disease
por: Stefanski, Katherine M., et al.
Publicado: (2022)