A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

AJ van der Kooi*, Marianne de Visser, M van Meegen, HB Ginjaar, AJ van Essen, FGI Jennekens, PJH Jongen, NJ Leschot, PA Bolhuis

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    18 Citations (Scopus)

    Abstract

    Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly progressive dystrophy. (C) 1998 Elsevier Science B.V. All rights reserved

    Original languageEnglish
    Pages (from-to)305-308
    Number of pages4
    JournalNeuromuscular disorders
    Volume8
    Issue number5
    Publication statusPublished - Jun-1998
    Event2nd International Congress of the World-Muscle-Society - , Tunisia
    Duration: 16-Oct-199718-Oct-1997

    Keywords

    • limb girdle muscular dystrophy
    • gamma-sarcoglycan
    • BETA-SARCOGLYCAN
    • LINKAGE
    • COMPLEX
    • GENE

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