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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Muscle Nerve
Hauptverfasser: Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
Schlagworte:
Article
Online Zugang: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: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge