Duplication in chromosome 17p11. 2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
P Raeymaekers, V Timmerman, E Nelis… - Neuromuscular …, 1991 - Elsevier
Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease
type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system
characterized by progressive weakness and atrophy of distal limb muscles. In the majority of
HMSN I families, linkage studies localized the gene (CMT 1a) to the pericentromeric region
of chromosome 17. We have detected with probe pVAW409R3 (D17S122) localized in
17p11. 2 a duplication, co-segregating with the disease in 12 HMSN I families. In these …
type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system
characterized by progressive weakness and atrophy of distal limb muscles. In the majority of
HMSN I families, linkage studies localized the gene (CMT 1a) to the pericentromeric region
of chromosome 17. We have detected with probe pVAW409R3 (D17S122) localized in
17p11. 2 a duplication, co-segregating with the disease in 12 HMSN I families. In these …