Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive form of leukodystrophy caused by homozygous or compound heterozygous mutations of the RNA polymerase III subunit genes, including subunit A (POLR3A). With respect to the manifestation triad, hypomyelination, hypodontia, and...

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Bibliographic Details
Main Authors: Soma Furukawa, Misako Kunii, Hiroshi Doi, Naohide Kondo, Aya Ogura, Koichi Hirabuki, Takayuki Itoh, Naomichi Matsumoto, Fumiaki Tanaka, Masahisa Katsuno, Yasuhiro Ito
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Neurology
Subjects:
RNA polymerase III-related leukodystrophy
4H leukodystrophy
POLR3A
bone fracture
osteoporosis
anti-RANKL monoclonal antibody
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.622355/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.622355/full

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