The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

CMT disease caused by gene mutations is rare. The mode of inheritance can be dominant or recessive and nerve conduction velocities can be normal, reduced (demyelinating) or presenting intermediate values. Two Portuguese adult related members in two successive generations were affected by peripheral...

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Veröffentlicht in:	Acta myologica 2019-09, Vol.38 (3), p.180-183
Hauptverfasser:	Machado, Rita, Pinto-Basto, Jorge, Negrão, Luís
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Charcot-Marie-Tooth Disease - genetics Female Humans Male Middle Aged Mutation, Missense Neurofilament Proteins - genetics Original Pedigree Peripheral Nervous System Diseases - genetics Phenotype Portugal
Online-Zugang:	Volltext
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