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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

4 Dec 2018

Abstract excerpt

OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy. METHODS: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI,...

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PMID: 30515627
DOI: 10.1007/s00415-018-9137-8

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