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

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

American journal of medical genetics. Part A - 1 Nov 2017

Abdullah Sarah, Hawkins Cynthia, Wilson Gregory, Yoon Grace, Mertens Luc, Carter Melissa T, Guerin Andrea

Abstract excerpt

Walker-Warburg syndrome (WWS) is a rare autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in α-dystroglycan glycosylation have been implicated in the aetiology of WWS. We describe a patient with nonclassical features of WWS presenting with heart failure related to noncompaction cardiomyopathy resulting in death at 4 months...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Cardiomyopathies
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Infant

Share to Mannosyltransferases

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 28980384
DOI: 10.1002/ajmg.a.38394

Genes

POMT2

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

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.PMID 28980384Read ↗

Walker-Warburg syndrome.Semantic proximity Read ↗

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.Semantic proximity Read ↗

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.Semantic proximity Read ↗

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.Semantic proximity Read ↗

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.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 ↗

RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS.Semantic proximity Read ↗

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

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.Semantic proximity Read ↗

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

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

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.Semantic proximity Read ↗

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