Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
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چکیده
منابع مشابه
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of caveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 ...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2002
ISSN: 0022-3050
DOI: 10.1136/jnnp.73.1.65