Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Highlights • Two unrelated families with an autosomal dominant axonal CMT • The p.R226del variant was associated with large clinical variability • A novel founder dominant GDAP1 variant was found

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2017-07, Vol.27 (7), p.667-672
Hauptverfasser:	García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, Millán, Beatriz San, Gómez, Manuel Arias, Sobrido, María-Jesús, Fernández, Julio Pardo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Axons - pathology Charcot-Marie-Tooth Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology CMT2K DNA Mutational Analysis Exons - genetics Family Health Female GDAP1 variants HeLa Cells Hereditary neuropathy Humans Male Membrane Transport Proteins - metabolism Middle Aged Mitochondria - pathology Mitochondria - ultrastructure Mutation - genetics Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurology Pathogenic mutation Phenotype Receptors, Cell Surface - metabolism Spain Sural Nerve - metabolism Transfection Young Adult
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Beschreibung
Zusammenfassung:	Highlights • Two unrelated families with an autosomal dominant axonal CMT • The p.R226del variant was associated with large clinical variability • A novel founder dominant GDAP1 variant was found
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.01.008