PYROXD1 Variants Cause an Overlapping Myopathy and Connective Tissue Disorder

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The authors described two female probands from unrelated families presenting with features of a congenital connective tissue disorder including osteopenia, blue sclera, soft skin, joint hypermobility and neuromuscular junction dysfunction in addition to known features of PYROXD1 myopathy including respiratory difficulties, weakness, hypotonia and oromotor dysfunction.
[Human Molecular Genetics]
Abstract