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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… Click to show full 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 gastrocnemii on whole body MRI scan. Light microscopic and ultrastructural examination showed few atrophic fibres, abnormal mitochondria, focal myofibrillar disruption and endomysial capillary microangiopathy.
Keywords:
microangiopathy mild;
mild mixed;
piezo;
neuromyopathic alterations;
mixed neuromyopathic;
mutation
Journal Title: Neuromuscular Disorders
Year Published: 2018
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Journal Title: Neuromuscular Disorders
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!