[DMD gene--the largest human gene].
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The hypodermic needle popularized by Edward Tuohy, MD for use in his method of continuous spinal anesthesia has been incorrectly called the "Tuohy needle" since he first popularized it in 1945. It was recently determined that Ralph L. Huber, a Seattle dentist, was the inventor of this widely used needle. However, very little is known about Huber. There is no mention of him in the medical literature, and until recently, he was forgotten. Through the location of various primary sources, including the original needle point invented by Dr. Huber, this essay introduces the fascinating life of Dr. Huber, and also his personal notes about his inventions. Not only was he a prominent Seattle dentist, but also a prolific inventor.
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We here report linkage studies in a family suffering from a recently described hereditary muscle disease named X-linked myopathy with excessive autophagy (XMEA). Significant lod scores excluding linkage to the Duchenne-Becker muscular dystrophy locus were found. Several other loci on the short and long arms of the X chromosome produced negative lod scores, whereas probe DX13-7 defining locus DXS15 showed no recombinants and a lod score of z = 0.903 at theta = .0. Further studies should be done to determine whether the gene for XMEA is (1) located at Xq and (2) caused by a mutation of the Emery-Dreifuss muscular dystrophy gene, which has been assigned to the same region.
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