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LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings...

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Detalles Bibliográficos
Autores principales: Bijarnia-Mahay, Sunita, Roy, Gaurav, Padiath, Quasar S., Saxena, Renu, Verma, Ishwar Chander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370147/
https://www.ncbi.nlm.nih.gov/pubmed/34447008
http://dx.doi.org/10.4103/aian.AIAN_1262_20

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