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A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
Download from doi.orgLPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood
Download from hal.archives-ouvertes.frTriple A syndrome: two novel mutations in the AAAS gene
Download from www.ncbi.nlm.nih.govDistinct muscle imaging patterns in myofibrillar myopathies
Download from www.ncbi.nlm.nih.govTriple A syndrome mimicking ALS
UploadProgressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation
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