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

B Rohkamm, MM Reilly, H Lochmüller… - Journal of the …, 2007 - Elsevier
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–Seip Congenital Lipodystrophy 2 (BSCL2)
and in the glycyl-tRNA synthetase encoding (GARS) genes. Mutations in the heat-shock
proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) …