Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients...

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Veröffentlicht in:	Colombia médica (Cali, Colombia) Colombia), 2016-07, Vol.46 (4)
Hauptverfasser:	Martin, Angela M, Maradei, Silvia J, Velasco, Harvy M
Format:	Artikel
Sprache:	eng
Schlagworte:	Efecto fundador, neuropatía hereditaria sensitiva y motora, neuropatía axonal, asesoramiento genético, enfermedad de charcot marie tooth Founder effect, hereditary sensory and motor neuropathy, axonal neuropathy, genetic counseling, Charcot-Marie-Tooth Disease
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