Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation.

Authors :: Quade A
Weis J
Kurth I
Rolke R
Bienert M
Schrading S
Rohrmann D
Yüksel Z
Häusler M
Source :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 Dec; Vol. 28 (12), pp. 1006-1011. Date of Electronic Publication: 2018 Aug 29.
Publication Year :: 2018
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.<br /> (Copyright © 2018 Elsevier B.V. All rights reserved.)

Subjects :: Child
Female
Humans
Magnetic Resonance Imaging
Muscle Hypotonia diagnostic imaging
Muscular Atrophy diagnostic imaging
Peripheral Vascular Diseases diagnostic imaging
Ion Channels genetics
Muscle Hypotonia genetics
Muscle, Skeletal diagnostic imaging
Muscular Atrophy genetics
Mutation
Peripheral Vascular Diseases genetics

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