Gamma-Sarcoglycanopathy (LGMD 2C) with del 525t mutation: Report of the first familial case in Niger

Abstract

The authors report a familial case of limb-girdle muscular dystrophy (LGMD) upon five subjects of six siblings while parents showed no evidence of muscular dystrophy. The family’s pedigree up to five generations didn’t reveal any known case in the past even though consanguinity was reported. The clinical observations revealed wheelchair bound or difficulties for walking in all affected subjects, due to muscular dystrophy involving mainly the pelvic girdle. CK was higher than normal values in both affected children and their parents. The
scanner of thigh showed in all patients an atrophy of the quadriceps with fatty conversion. Molecular analyses were carried out, first by western blot test which revealed gamma-sacoglycan deficiency and secondary by a gene screening which showed Del 525T mutation. This mutation is the most widespread in arabo-berbères tribes including Touaregs. These cases are in our knowledge original in that part of Africa in south of the Maghreb. The authors stress on histological and
molecular bases of the LGMD.

Key words: gamma-sarcoglycanopathy, LGMD 2C, Del 525T mutation, Niger