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Article

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Neuromuscular disorders : NMD - 1 Aug 2008

Vajsar Jiri, Baskin Berivan, Swoboda Kathryn, Biggar Doug W, Schachter Harry, Ray Peter N

Abstract excerpt

Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. Patients present with hypotonia, weakness, developmental delay, mental retardation and occasional seizures. Other abnormalities were also described including cleft lip and palate. Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children...

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Source

Identifiers

PMID: 18640039
DOI: 10.1016/j.nmd.2008.05.014

Genes

POMT1
FKRP
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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.PMID 18640039Read ↗

Walker-Warburg syndrome.Semantic proximity Read ↗

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

Expanding the clinical spectrum of POMT1 phenotype.Semantic proximity Read ↗

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Semantic proximity Read ↗

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

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

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Semantic proximity Read ↗

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 ↗

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.Semantic proximity Read ↗

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and 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 ↗

POMT2 mutation in a patient with 'MEB-like' phenotype.Semantic proximity Read ↗

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