Telethoninopathy is one of the rarest forms of Limb-girdle muscular dystrophy (LGMD). So far, only a small number of LGMD type 2 G (LGMD2G) patients have been described, mostly patients from Brazil. Here we present a 35-year-old female patient of Turkish ethnicity with LGMD2G due to a novel homozygous frame-shift mutation c.90_91del (p.Ser31Hisfs*11) in the telethonin gene, probably leading to truncated protein or nonsense mediated decay. Myalgia and walking on tiptoes were the first symptoms starting in early childhood, around age 22 proximal, later distal leg muscles became affected. Muscle biopsy showed a degenerative myopathy with lobulated fibers, creatine kinase levels were elevated to 1200 U/l. No cardiomyopathy has been detected but ventricular extrasystoles were treated with verapamil. Even though telethoninopathy represents a rare condition, testing for LGMD2G should be included into the diagnostic work-up of mild myopathies with early toe walking and distal and proximal involvement.
Keywords: LGMD2G; Limb girdle muscular dystrophy; TCAP; Telethonin deficiency.
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