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Genetic Mapping of Human Heart-Skeletal Muscle Adenine Nucleotide Translocator and Its Relationship to the Facioscapulohumeral Muscular Dystrophy Locus

✍ Scribed by Y. Haraguchi; A.B. Chung; A. Torroni; G. Stepien; J.M. Shoffner; J.J. Wasmuth; D.A. Costigan; M. Polak; M.R. Altherr; S.T. Winokur; D.C. Wallace

Book ID: 115611584
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 471 KB
Volume: 16
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1993.1214

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✍ Cisca Wijmenga; Sara T. Winokur; George W. Padberg; Mette I. Skraastad; Michael 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 726 KB

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