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

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Prenatal diagnosis - 1 Jun 2009

Chang Wendy, Winder Thomas L, LeDuc Charles A, Simpson Lynn L, Millar William S, Dungan Jeffrey, Ginsberg Norman, Plaga Stacey, Moore Steven A, Chung Wendy K

Abstract excerpt

OBJECTIVE: Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscular Dystrophies

Share to Pregnancy

Share to Syndrome

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 19266496
DOI: 10.1002/pd.2238
PMCID: PMC2735827

Genes

FKTN
POMT1
POMT2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.PMID 19266496Read ↗

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.Semantic proximity Read ↗

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Semantic proximity Read ↗

Walker-Warburg syndrome.Semantic proximity Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Semantic proximity Read ↗

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.Semantic proximity Read ↗

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.Semantic proximity Read ↗

Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.Semantic proximity Read ↗

Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathySemantic proximity Read ↗

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.Semantic proximity Read ↗

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.Semantic proximity Read ↗

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.Semantic proximity Read ↗

Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.Semantic proximity Read ↗

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