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

Autor:	Ingo Kurth, Roman Rolke, Zafer Yüksel, Martin Häusler, Dorothea Rohrmann, Simone Schrading, Marion Bienert, Joachim Weis, Annegret Quade
Rok vydání:	2018
Předmět:	0301 basic medicine Pathology medicine.medical_specialty Abnormal mitochondria Whole body mri medicine.disease_cause Ion Channels 03 medical and health sciences 0302 clinical medicine Atrophy Generalized muscular hypotonia medicine Humans Child Muscle Skeletal Genetics (clinical) Peripheral Vascular Diseases Mutation medicine.diagnostic_test business.industry Microangiopathy Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging Muscular Atrophy 030104 developmental biology Neurology Pediatrics Perinatology and Child Health Muscle Hypotonia Female Neurology (clinical) business Myofibril 030217 neurology & neurosurgery
Zdroj:	Neuromuscular Disorders. 28:1006-1011
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2018.08.009
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fc1f46935cf1e9f5e09fe2fb1e9dbc https://doi.org/10.1016/j.nmd.2018.08.009 Zobrazit plný text záznamu Full Text from ScienceDirect