Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

Excerpt

Limb girdle muscular dystrophies (LGMD) are a clinically and genetically heterogenous group of disorders characterised by weakness and wasting of predominantly the pelvic and shoulder girdle muscles [2,3]. Mutations in the recently identified fukutin-related protein gene FKRP (MIM 606596), which encodes a putative glycosyltransferase, cause LGMD type 2I (LGMD21) as well as congenital muscular dystrophy (MDC) type 1C [1]. In patients with LGMD2I, apparently the most common form of autosomal-recessive LGMD in Europe, considerable variability of age of onset, progression and cardiorespiratory involvement has been reported [4, 5,6]. We describe the clinical course in two boys (patient 1; patient 2) of healthy, non-consanguineous parents with normal psychomotor development (patient 1 walked at the age of 11 months and patient 2 at the age of 10 months). …