Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2013

Tamura Asako, Niwa Atsushi, Ii Yuichiro, Sasaki Ryogen, Tomimoto Hidekazu, Saitsu Hirotomo

Abstract excerpt

We describe a 34-year-old man with hypomyelination, hypogonadotropic hypogonadism, ataxia, and myopia without hypodontia. He was born to non-consanguineous parents, and had an elder brother who showed a similar phenotype. Laboratory studies demonstrated low level of LH, FSH and testosterone. MRI showed hypomyelination, atrophy of the cerebellum and the hypoplastic corpus callosum. Homozygous missensze mutation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Mutation
Share to Pelizaeus-Merzbacher Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RNA Polymerase III

Source

Identifiers

PMID: 23965854
DOI: 10.5692/clinicalneurol.53.624

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].PMID 23965854Read ↗

[A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A].Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.Semantic proximity Read ↗

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Semantic proximity Read ↗

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Semantic proximity Read ↗

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Semantic proximity Read ↗

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.