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

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

European journal of human genetics : EJHG - 1 Sept 2017

Storbeck Markus, Horsberg Eriksen Beate, Unger Andreas, Hölker Irmgard, Aukrust Ingvild, Martínez-Carrera Lilian A, Linke Wolfgang A, Ferbert Andreas, Heller Raoul, Vorgerd Matthias, Houge Gunnar, Wirth Brunhilde

Abstract excerpt

Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Asymptomatic Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Microtubule-Associated Proteins

Share to Muscle, Skeletal

Share to Muscular Atrophy, Spinal

Share to Mutation, Missense

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 28635954
DOI: 10.1038/ejhg.2017.98
PMCID: PMC5558181

Genes

BICD2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.PMID 28635954Read ↗

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

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

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

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

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

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

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

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

Distal myopathy due to BICD2 mutations.Semantic proximity Read ↗

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.Semantic proximity Read ↗

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