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Clinical and Genetic Analysis of a Patient with CMT4J

We report the clinical and genetic analysis of a patient with a rare form of an autosomal recessive genetic neuropathy, Charcot Marie Tooth (CMT) disease type 4J. She presented at age 62 years with signs and symptoms consistent with a mild neuropathy. The onset of symptoms began approximately ten ye...

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Detalles Bibliográficos
Autores principales: Peddareddygari, Leema Reddy, Grewal, Raji P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883980/
https://www.ncbi.nlm.nih.gov/pubmed/35225887
http://dx.doi.org/10.3390/neurolint14010017