Ontology highlight
ABSTRACT:
SUBMITTER: Leal A
PROVIDER: S-EPMC1234926 | biostudies-literature | 2001 Jan
REPOSITORIES: biostudies-literature
Leal A A Morera B B Del Valle G Heuss D D Kayser C C Berghoff M M Villegas R R Hernández E E Méndez M M Hennies H C HC Neundörfer B B Barrantes R R Reis A A Rautenstrauss B B
American journal of human genetics 20001207 1
Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results of a genomewide search in an inbred Costa Rican family (CR-1) affected with autosomal recessive CMT2. By analyzing three branches of the family we detected linkage to the 19q13.3 reg ...[more]