Glyc-O-genetics of Walker-Warburg syndrome.

Glyc-O-genetics of Walker-Warburg syndrome. Research Abstract Details 

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Glyc-O-genetics of Walker-Warburg syndrome. Abstract Text:

Walker-Warburg syndrome (WWS) is the most severe of a group of multiple congenital anomaly disorders known as the cobblestone lissencephalies. These are characterized by congenital muscular dystrophy in conjunction with severe brain malformation and ocular abnormalities. In the last 3 years, important progress has been made towards the elucidation of the genetic causes of these disorders. Mutations in three genes, POMT1, fukutin and FKRP, have been described for WWS, which together account for approximately 20% of patients with Walker-Warburg. It has become evident that some of the underlying genes may cause a broad spectrum of phenotypes, ranging from limb girdle muscular dystrophy type 2I to WWS. In some cases, a genotype-phenotype correlation can be recognized. In line with the known or proposed functions of the resolved genes, all patients with cobblestone lissencephaly show defects in the O-linked glycosylation of the glycoprotein alpha-dystroglycan. Perhaps, the missing genes underlying the remainder of the unexplained WWS patients have also to be sought in the pathways involved in O-linked protein glycosylation.

Glyc-O-genetics of Walker-Warburg syndrome. Publishing Authors By Initials

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Glyc-O-genetics of Walker-Warburg syndrome. Journal Published:

PUBLICATION TYPE: Review

Journal: Clinical genetics

VOLUME: 67

Page Numbers: 281-9

Journal Abbreviation: Clin. Genet.

ISSN: 0009-9163

DAY: 6

MONTH: Apr

YEAR: 2005

Glyc-O-genetics of Walker-Warburg syndrome. Information

Number of References: 67

LANGUAGE: eng

NlmUniqueID: 253664

Glyc-O-genetics of Walker-Warburg syndrome. Keywords Mesh Terms:

KEYWORDS: Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Glyc-O-genetics of Walker-Warburg syndrome. Information

Substance Name: protein O-mannosyltransferase

Registry Number: EC 2.4.1.109

Grant and Affiliation Information for Glyc-O-genetics of Walker-Warburg syndrome.

AFFILIATION: Department of Human Genetics, Radboud University Nijmegen Medical center, The Netherlands.

Country: Denmark

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MEDLINETA: Clin Genet

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