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Article

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

Pediatric neurology - 1 Jun 2015

Yamada Hiroyuki, Nishida Yoshinobu, Maihara Toshiro, Sa'adah Nihayatus, Harahap Nur Imma Fatimah, Nurputra Dian Kesumapramudya, Ar Rochmah Mawaddah, Nishimura Noriyuki, Saito Toshio, Kubo Yuji, Saito Kayoko, Nishio Hisahide

Abstract excerpt

BACKGROUND: Spinal muscular atrophy is caused by survival motor neuron gene SMN1 mutations. SMN1 produces a full-length SMN1 protein isoform encoded by exons 1-7, and an axonal-SMN protein isoform encoded by exons 1-3 and intron 3. The axonal-SMN protein is expressed only in the embryonic period and plays a significant role in axonal growth. However, there has been no report on contribution of axonal-SMN to...

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Source

Identifiers

PMID: 25838041
DOI: 10.1016/j.pediatrneurol.2015.02.023

Genes

SMN1
NAIP
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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