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Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Martin KrennMatthias TomschikMatias WagnerGudrun ZulehnerRosa WengJakob RathSigrid KlotzEllen GelpiGabriel BstehOmar KeritamIsabella ColonnaChiara PaternostroFiona JägerElisabeth Lindeck-PozzaStephan IglsederSusanne GrinzingerMartina SchönfelderChristina HohenwarterManfred FreimüllerNorbert EmbacherJulia V WanschitzRaffi TopakianAna TöpfVolker StraubStefan QuasthoffFritz ZimprichWolfgang N LöscherHakan Cetin
Published in: European journal of neurology (2022)
Our findings suggest that an earlier use of NGS in patients with LGW is needed to avoid long diagnostic delays. We further present parameters predictive of a molecular diagnosis that may help to select patients for genetic analyses, especially in centres with limited access to sequencing.
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