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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy
Back pain Low back pain is very common, it is estimated that 84% of the general population experience low back pain at least once in adulthood, with up to 90% being non-specific and without known cause
Other symptoms The buildup of copper in other organs can cause: bluish discoloration in the nails kidney stones premature osteoporosis, or lack of bone density arthritis menstrual irregularities low blood pressure A mutation in the ATP7B gene, which codes for copper transportation, causes Wilsons disease
It plays a critical role in neutralising free radicals, supporting liver detoxification, modulating melanin synthesis, and maintaining overall cellular health
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