Discover Community Create You

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 severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.

Brain & development - 1 Jan 2021

Ueda Yuki, Suganuma Takashi, Narumi-Kishimoto Yoko, Kaname Tadashi, Sato Tomonobu

Abstract excerpt

BACKGROUND: Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis multiplex. CASE REPORT: A girl was born with severe muscle weakness and respiratory distress. A fetal ultrasound had detected polyhydramnios and multiple joint...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lower Extremity

Share to Microtubule-Associated Proteins

Share to Muscular Atrophy

Share to Muscular Atrophy, Spinal

Share to Mutation, Missense

Source

Identifiers

PMID: 32888736
DOI: 10.1016/j.braindev.2020.08.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.PMID 32888736Read ↗

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.Semantic proximity Read ↗

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.Semantic proximity Read ↗

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Semantic proximity Read ↗

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.Semantic proximity Read ↗

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.Semantic proximity Read ↗

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.Semantic proximity Read ↗

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.Semantic proximity Read ↗

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Semantic proximity Read ↗

SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.Semantic proximity Read ↗

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

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.Semantic proximity Read ↗

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.Semantic proximity Read ↗

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