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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Authors: Godfrey, Caroline  Escolar, Diana  Brockington, Martin  Clement, Emma M  Mein, Rachael  Jimenez-Mallebrera, Cecilia  Torelli, Silvia  Feng, Lucy  Brown, Susan C  Sewry, Caroline A  Rutherford, Mary  Shapira, Yehuda  Abbs, Stephen  Muntoni, Francesco 
Citation: Godfrey C, etal., Ann Neurol. 2006 Nov;60(5):603-10.
Pubmed: (View Article at PubMed) PMID:17044012
DOI: Full-text: DOI:10.1002/ana.21006


OBJECTIVE: Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and severe structural brain involvement, collectively known as dystroglycanopathies. Six causative genes have been identified in these disorders including fukutin. Mutations in fukutin cause Fukuyama congenital muscular dystrophy. This is the second most common form of muscular dystrophy in Japan and is invariably associated with mental retardation and structural brain defects. The aim of this study was to determine the genetic defect in two white families with a dystroglycanopathy.
METHODS: The six genes responsible for dystroglycanopathies were studied in three children with a severe reduction of alpha-dystroglycan in skeletal muscle.
RESULTS: We identified pathogenic fukutin mutations in these two families. Affected children had normal intelligence and brain structure and shared a limb girdle muscular dystrophy (LGMD) phenotype, had marked elevation of serum creatine kinase, and were all ambulant with remarkable steroid responsiveness.
INTERPRETATION: Our data suggest that fukutin mutations occur outside Japan and can be associated with much milder phenotypes than Fukuyama congenital muscular dystrophy. These findings significantly expand the spectrum of phenotypes associated with fukutin mutations to include this novel form of limb girdle muscular dystrophy that we propose to name LGMD2L.

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RGD Object Information
RGD ID: 11576328
Created: 2017-01-10
Species: All species
Last Modified: 2017-01-10
Status: ACTIVE



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