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Article

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

Journal of human genetics - 1 Apr 2017

Ikeda Toshio, Nakahara Akihiko, Nagano Rie, Utoyama Maiko, Obara Megumi, Moritake Hiroshi, Uechi Tamayo, Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Kenmochi Naoya, Morishita Shinichi, Nishino Ichizo, Tsuji Shoji, Nunoi Hiroyuki

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thought to be caused by variants in as yet unidentified causative genes. Here, we presented the clinical findings of two siblings with an SMA variant followed by...

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Source

Identifiers

PMID: 27928163
DOI: 10.1038/jhg.2016.149

Genes

TBCD
BAHCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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