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4. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567 [Abstract] [Full Text] [Related]
8. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H. Eur J Hum Genet; 1998 Aug; 6(4):376-82. PubMed ID: 9781046 [Abstract] [Full Text] [Related]
9. Identifiying inherited disease through the family history. Caskey CT. Am Fam Physician; 1975 Feb; 11(2):118-27. PubMed ID: 123698 [Abstract] [Full Text] [Related]
18. [Genetics of child spinal amyotrophy : existence of 2 autosomal recessive forms]. Feingold J, Arthuis M, Celers J. Ann Genet; 1977 Mar; 20(1):19-23. PubMed ID: 302668 [Abstract] [Full Text] [Related]
19. [Clinical picture, pathogenesis and geneology of hereditary progressive spinal muscular atrophies]. Nesterov LN, Sushcheva GP, Viatkina SIa, Novikova NP. Zh Nevropatol Psikhiatr Im S S Korsakova; 1984 Mar; 84(3):321-30. PubMed ID: 6326437 [Abstract] [Full Text] [Related]
20. A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C. Neurology; 2005 Apr 26; 64(8):1458-60. PubMed ID: 15851746 [Abstract] [Full Text] [Related] Page: [Next] [New Search]