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Article

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Neuromuscular disorders : NMD - 1 Sept 2017

Ikenberg Elena, Karin Ivan, Ertl-Wagner Birgit, Abicht Angela, Bulst Stefanie, Krause Sabine, Schoser Benedikt, Reilich Peter, Walter Maggie C

Abstract excerpt

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...

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PMID: 28666572
DOI: 10.1016/j.nmd.2017.05.017

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