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RFLP analysis for the mutation L377P in the family of patient 2. Presence of a homozygous state in muscle DNA (lane 2) and blood DNA (lane 7) of the patient.The mutation is heterozygous in both parents (motherçlane1; fatherçlane 3) and in one healthy sibling (lane 6), and absent in another healthy sibling (lane 4) and in the patients wife (lane 5) as well as in a normal control (lane 8).
