Recently, a new gene (GMPPB), responsible for causing both LGMD type 2T and congenital muscular dystrophy (CMD), has been identified. Mutations in GMPPB lead to hypoglycosylation of α-dystroglycan.2 Approximately 40 patients with GMPPB mutations and muscular dystrophy have been reported worldwide with phenotypes equally distributed between LGMD and CMD. In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in six new patients with limb-girdle muscular dystrophy (LGMD) type 2T in Denmark. The main new findings of this study are (1) the consistent finding of a preferential affection of paraspinal and hamstring muscles in LGMD2T, (2) 3 new mutations in GMPPB, (3) variable loss of glycosylation tested with IIH6 and VIA4 antibodies, and (4) a prevalence of LGMD2T of 1.5% in Denmark.
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Oestergaard ST, Stojkovic T, Dahlqvist JR, et al. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). Neurol Genet. 2016 Oct 11;2(6):e112.
