MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes

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Bibliographic Details
Published in:Clinical genetics 2020-11, Vol.98 (5), p.517-519
Main Authors: Malaquias, Maria João, Martins, Ricardo Cruz, Oliveira, Jorge, Freixo, João Parente, Magalhães, Marina
Format: Article
Language:English
Subjects:
Adult
Aged
Basal Ganglia Diseases - diagnosis
Basal Ganglia Diseases - diagnostic imaging
Basal Ganglia Diseases - genetics
Basal Ganglia Diseases - pathology
Brain - diagnostic imaging
Brain - pathology
Brain Diseases - diagnosis
Brain Diseases - diagnostic imaging
Brain Diseases - genetics
Brain Diseases - pathology
Calcification
Calcinosis - diagnosis
Calcinosis - diagnostic imaging
Calcinosis - genetics
Calcinosis - pathology
Female
Glycoside Hydrolases - genetics
Humans
Middle Aged
Mutation - genetics
Neurodegenerative Diseases - diagnosis
Neurodegenerative Diseases - diagnostic imaging
Neurodegenerative Diseases - genetics
Neurodegenerative Diseases - pathology
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13836