Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation
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DOI: 10.1016/j.nmd.2018.08.009
Abstract: We report a 9-year-old girl homozygous for a loss-of-function mutation in the PIEZO-2 gene. She showed generalized muscular hypotonia with severe scoliosis, joint deformities, deficient proprioceptive function and selective atrophy and signal alterations of both… read more here.
Keywords: microangiopathy mild; mild mixed; piezo; neuromyopathic alterations ... See more keywords