Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy

INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimicks motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of A...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Muscle Nerve
Main Authors: Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494018/
https://ncbi.nlm.nih.gov/pubmed/28039894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25550
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados