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Montagnese, Federica; Klupp, Elisabeth; Karampinos, Dimitrios C.; Biskup, Saskia; Gläser, Dieter; Kirschke, Jan S.; Schoser, Benedikt (2017): Two patients with GMPPB mutation: the overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. In: Muscle & Nerve, Vol. 56, No. 2: pp. 334-340
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Introduction: Mutations in the guanosine diphosphate-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies, limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs);overall, 41 patients have been described. Methods: Two patients presented with a myasthenic syndrome (patient 1;74 years old) and rhabdomyolysis (patient 2;23 years old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI);next generation sequencing facilitated diagnosis. Results: We identified the following GMPPB mutations: c. 79G > C/c.859C > T in the 23-year-old man with LGMD2T-phenotype and c. 79G > C homozygosity in the 74-year-old woman with CMS phenotype. WBMRI showed fatty degeneration of paraspinal, thigh adductor, and calf muscles in patient 1 and edematous changes of the soleus muscle in patient 2. Conclusions: This case of c. 79G > C homozygosity causing a mild, late-onset CMS phenotype, confirms the mild nature of this common mutation. The descriptions of these 2 new GMPPB cases add to the knowledge regarding this recently discovered, heterogeneous disease.