Contribution of immunological and genetic investigations to improve classification of patients with congenital muscular dystrophy.

Objective: To minimize the uncertainty in clinical diagnosis and improve the classification of 14 Tunisian patients belonging to 12 families and affected with congenital muscular dystrophy (CMD).

Methods: Fourteen patients belonging to 12 unrelated families originating from the south of Tunisia and affected with CMD were clinically examined between 1990 and 2001 in the neurology service of Chu Habib Bourguiba, Sfax, Tunisia. Immunohistochemical and western blot analyses were used to explore protein expression in muscular biopsies and homozygosity mapping using microsatellite markers for the genetic study.