Biochemical and genetic studies in a fam
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Terry D. Heiman-Patterson; Zohar Argov; Jeffrey M. Chavin; Bernadette Kalman; Ha
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Article
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1997
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John Wiley and Sons
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English
โ 207 KB
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We present a family with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. Fifteen of 24 family members in five generations were affected. Since the affected males do not have offspring at this time, the family pedigree is consistent with either maternal or autosomal d