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From the Department of Neurology (Drs. Chance, Wang, and Fischbeck, and L.J. Bone and M.W. Lensch), University of Pennsylvania School of Medicine, Philadelphia, PA; the Department of Clinical Genetics and Pediatrics (Dr. Dahl), University Hospital, Uppsala, Sweden; the Division of Neurology (Dr. Chance, and M.W. Lensch), Children's Hospital of Philadelphia, PA; the Division of Medical Genetics (Dr. Kelly), University of Virginia Health Sciences Center, Charlottesville, VA; Federation de Neurologie and INSERM U 289 (Dr. Le Guern), Hopital de La Salpetriere, Paris, France; Neurologia (Dr. Magi), Ospedale Nuovo, Arezzo, Italy; the Department of Neurology (Dr. Parry), University of Minnesota School of Medicine, Minneapolis, MN; and SylvanLab, Inc. (Dr. Shapiro), Paoli Technology Enterprise Center, Paoli, PA.
Supported in part by grants from the Muscular Dystrophy Association, the NIH (grant no. NS08075), and the Swedish Medical Research Council.
Received January 27, 1995. Accepted in final form March 6, 1995.
Address correspondence and reprint requests to Linda Jo Bone, University of Pennsylvania School of Medicine, Department of Neurology, Clinical Research Building Room 250, 415 Curie Boulevard, Philadelphia, PA 19104.
Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the distribution of connexin32 mutations in X-linked Charcot-Marie-Tooth disease and shows that specific mutations recur in additional families.
NEUROLOGY 1995;45: 1863-1866
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