Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

doi:10.1016/j.jns.2007.06.047

Article

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Journal of the neurological sciences - 15 Dec 2007

Rohkamm Barbara, Reilly Mary M, Lochmüller Hanns, Schlotter-Weigel Beate, Barisic Nina, Schöls Ludger, Nicholson Garth, Pareyson Davide, Laurà Matilde, Janecke Andreas R, Miltenberger-Miltenyi Gabriel, John Elisabeth, Fischer Carina, Grill Franz, Wakeling William, Davis Mary, Pieber Thomas R, Auer-Grumbach Michaela

Abstract excerpt

OBJECTIVE: Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Abstract excerpt

Topics

Related research