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Article

Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.

Brain & development - 1 Apr 2018

Yoshioka Mieko, Morisada Naoya, Toyoshima Daisaku, Yoshimura Hajime, Nishio Hisahide, Iijima Kazumoto, Takeshima Yasuhiro, Uehara Tomoko, Kosaki Kenjiro

Abstract excerpt

INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant...

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Source

Identifiers

PMID: 29273277
DOI: 10.1016/j.braindev.2017.12.001

Genes

BICD2
SMN1

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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