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Article

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

European journal of medical genetics - 1 Aug 2016

Miura Shiroh, Morikawa Takuya, Fujioka Ryuta, Kosaka Kengo, Yamada Kohei, Hattori Gohsuke, Motomura Manabu, Taniwaki Takayuki, Shibata Hiroki

Abstract excerpt

Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54-years-old male patient with autosomal recessive SPG. His parents were consanguineous. He needed a wheelchair for transfer due to spastic paraplegia. There was a history of operations for bilateral hallux valgus, thoracic ossification of the yellow ligament, bilateral carpal tunnel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27216551
DOI: 10.1016/j.ejmg.2016.05.010

Genes

DDHD1

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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