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3. A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. Matsumura K; Toda T; Hasegawa T; Kamei M; Imoto N; Shimizu T J Child Neurol; 1991 Jul; 6(3):251-6. PubMed ID: 1875028 [TBL] [Abstract][Full Text] [Related]
5. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Kato R; Kawamura J; Sugawara H; Niikawa N; Matsumoto N Am J Med Genet A; 2004 May; 127A(1):54-57. PubMed ID: 15103718 [TBL] [Abstract][Full Text] [Related]
6. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Hoffman EP; Kunkel LM; Angelini C; Clarke A; Johnson M; Harris JB Neurology; 1989 Aug; 39(8):1011-7. PubMed ID: 2668783 [TBL] [Abstract][Full Text] [Related]
7. Dystrophin analysis in the diagnosis of muscular dystrophy. Norman AM; Hughes HE; Gardner-Medwin D; Nicholson LV Arch Dis Child; 1989 Oct; 64(10):1501-3. PubMed ID: 2684033 [TBL] [Abstract][Full Text] [Related]
8. The muscular dystrophies. Bushby KM Baillieres Clin Neurol; 1994 Aug; 3(2):407-30. PubMed ID: 7952855 [TBL] [Abstract][Full Text] [Related]
10. Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. Vainzof M; Pavanello RC; Pavanello-Filho I; Rapaport D; Passos-Bueno MR; Zubrzycka-Gaarn EE; Bulman DE; Zatz M Am J Med Genet; 1991 Apr; 39(1):38-41. PubMed ID: 1867262 [TBL] [Abstract][Full Text] [Related]
11. [Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)]. Toda T; Kobayashi K Nihon Rinsho; 1997 Dec; 55(12):3169-75. PubMed ID: 9436430 [TBL] [Abstract][Full Text] [Related]
13. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Towbin JA; Hejtmancik JF; Brink P; Gelb B; Zhu XM; Chamberlain JS; McCabe ER; Swift M Circulation; 1993 Jun; 87(6):1854-65. PubMed ID: 8504498 [TBL] [Abstract][Full Text] [Related]
14. Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. Voit T; Stuettgen P; Cremer M; Goebel HH Neuropediatrics; 1991 Aug; 22(3):152-62. PubMed ID: 1944822 [TBL] [Abstract][Full Text] [Related]
15. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Kondo-Iida E; Kobayashi K; Watanabe M; Sasaki J; Kumagai T; Koide H; Saito K; Osawa M; Nakamura Y; Toda T Hum Mol Genet; 1999 Nov; 8(12):2303-9. PubMed ID: 10545611 [TBL] [Abstract][Full Text] [Related]
16. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Hoffman EP; Garcia CA; Chamberlain JS; Angelini C; Lupski JR; Fenwick R Ann Neurol; 1991 Oct; 30(4):605-10. PubMed ID: 1789686 [TBL] [Abstract][Full Text] [Related]
20. Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. Tunc T; Mungan IA; Okulu E; Tiras ST; Tekin M; Atasay B; Arsan S; Turmen T Genet Couns; 2009; 20(3):275-9. PubMed ID: 19852435 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]