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Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

✍ Scribed by Xiaodong Jiao; Francis L. Munier; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; June Lee; Daniel F. Schorderet; Muh-Shy Chen; Muriel Kaiser-Kupfer; J. Fielding Hejtmancik


Book ID
117012787
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
263 KB
Volume
67
Category
Article
ISSN
0002-9297

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Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observed in FSHD, the molecular defect is unknown. In add