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Muscular dystrophies are a clinically and genetically heterogenous group of primary degenerative, progressive diseases of the muscle with a highly veriable age of onset. Classification of disease is most often based on the respective gene and the mode of hereditytransmission. Limb girdle muscular dystrophy (LGMD) represents a subform of such dystrophies, wich is grouped in autosomal-dominant (LGMD1A-1D) and recessive (LGMD2A-I) forms, the latter including Sarcoglycanopathies which are caused by mutations in four different sarcoglycane genes (alpha, beta, gamma and delta). Sarcoglycane proteins are consistuents of the sarcolemma and are composed of 6 different subunits (alpha, beta, gamma, delta, epsilon and zeta), part of the dystrophine-associated protein complex (DGC). Yet, only a fraction of their functionality has been clarified, but sarcoglycanes mainly seem to be structual proteins interacting in the binding of dystroglycane and dystrophine/utrophine.
All LGMDs are caused by a primary defect of one of the components of the DGC, followed by a secondary effect on all othe components as well. Diagnosis necessitates the detection of a mutation in one of the sarcoglycane genes, following muscular biopsy with subsequent detection of decreased DGC components by immunohistochemistry and imunnoblotting.
Dr. Gabriele Dekomien
Humangenetik
Gebäude MA 5
Ruhr-Universität
Universitätsstr. 150
44801 Bochum
GermanyTel.: +49 234 32 25764
Fax: +49 234 32 14196
Limb-Girdle Muscular Dystrophy Overview
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