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A new mutation of the fukutin gene in a non-Japanese patient.

A new mutation of the fukutin gene in a non-Japanese patient. Research Abstract Details 

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  • A new mutation of the fukutin gene in a non-Japanese patient. Abstract Text:

    Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.

    A new mutation of the fukutin gene in a non-Japanese patient. Publishing Authors By Initials

    For similar proteins research abstracts see: proteins research

    PUBMED ID PMID:

    MEDLINE DATE:

    A new mutation of the fukutin gene in a non-Japanese patient. Journal Published:

    PUBLICATION TYPE: Research Support, Non-U.S. Gov

    Journal: Annals of neurology

    VOLUME: 53

    Page Numbers: 392-6

    Journal Abbreviation: Ann. Neurol.

    ISSN: 0364-5134

    DAY: 6

    MONTH: Mar

    YEAR: 2003

    A new mutation of the fukutin gene in a non-Japanese patient. Information

    Number of References:

    LANGUAGE: eng

    NlmUniqueID: 7707449

    A new mutation of the fukutin gene in a non-Japanese patient. Keywords Mesh Terms:

    KEYWORDS: Proteins

    MESH TERMS: genetics

    Chemical & Substance for Abstract: A new mutation of the fukutin gene in a non-Japanese patient. Information

    Substance Name: Proteins

    Registry Number: 0

    Grant and Affiliation Information for A new mutation of the fukutin gene in a non-Japanese patient.

    AFFILIATION: Department of Medical Biology, Abant Izzet Baysal University Duzce Medical Faculty, Duzce, Turkey.

    Country: United States

    United States Research PublicationUnited States Research Publication

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    GRANT:

    ACRONYM:

    MEDLINETA: Ann Neurol

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    Number Hits: 0

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