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5. Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion. Falsaperla R; Romeo G; Sorge A; Bianchini R; DiGiorgio A; Trigilia T; Mattina T; Connolly AM J Child Neurol; 2003 Jan; 18(1):79-81. PubMed ID: 12661947 [TBL] [Abstract][Full Text] [Related]
6. Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. Helderman-van den Enden AT; Ginjaar HB; Kneppers AL; Bakker E; Breuning MH; de Visser M Neuromuscul Disord; 2003 May; 13(4):317-21. PubMed ID: 12868501 [TBL] [Abstract][Full Text] [Related]
7. Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Tihy F; Vogt N; Recan D; Malfoy B; Leturcq F; Coquet M; Serville F; Fontan D; Guillard JM; Kaplan JC Hum Genet; 1994 May; 93(5):563-7. PubMed ID: 8168835 [TBL] [Abstract][Full Text] [Related]
8. [Manifesting carriers of Duchenne muscular dystrophy over two generations]. Itagaki Y; Saida K; Nishitani H; Matsuo M; Nishio H Rinsho Shinkeigaku; 1993 Apr; 33(4):377-81. PubMed ID: 8103723 [TBL] [Abstract][Full Text] [Related]
9. An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. Fidzianska A; Morrone A; Pegoraro E; Ryniewicz B; Ilnicka A; Zammarchi E; Hoffman EP Neuropediatrics; 1995 Jun; 26(3):163-7. PubMed ID: 7477755 [TBL] [Abstract][Full Text] [Related]
10. Duchenne muscular dystrophy in a girl identified by dystrophin deficiency. Maytal J; Shanske AL; Fox JE; Lipper S; Eviatar L Neuropediatrics; 1991 Aug; 22(3):163-5. PubMed ID: 1944823 [TBL] [Abstract][Full Text] [Related]
11. [Significance of dystrophin analysis in adult myopathies. Study methods, case reports and current pathogenetic considerations]. Gold R; Kress W; Meurers B; Müller CR; Reichmann H Nervenarzt; 1991 Jun; 62(6):360-8. PubMed ID: 1876220 [No Abstract] [Full Text] [Related]
12. X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. Wenger SL; Steele MW; Hoffman EP; Barmada MA; Wessel HB Am J Med Genet; 1992 Aug; 43(6):1012-5. PubMed ID: 1415326 [TBL] [Abstract][Full Text] [Related]
13. Mosaic pattern of dystrophin in DMD. Emery A Pediatr Neurol; 1990; 6(4):282. PubMed ID: 2271043 [No Abstract] [Full Text] [Related]
14. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. Lindenbaum RH; Clarke G; Patel C; Moncrieff M; Hughes JT J Med Genet; 1979 Oct; 16(5):389-92. PubMed ID: 513085 [TBL] [Abstract][Full Text] [Related]
15. [Duchenne muscular dystrophy carrier presenting with mosaic X chromosome constitution and muscular symptoms--with analysis of the barr bodies in the muscle]. Kinoshita M; Ikeda K; Yoshimura M; Saku A; Watanabe K Rinsho Shinkeigaku; 1990 Jun; 30(6):643-6. PubMed ID: 2225660 [TBL] [Abstract][Full Text] [Related]
16. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Wilton SD; Chandler DC; Kakulas BA; Laing NG Hum Mutat; 1994; 3(2):133-40. PubMed ID: 8199594 [TBL] [Abstract][Full Text] [Related]
17. Variable histological expression of dystrophinopathy in two females. Doriguzzi C; Palmucci L; Mongini T; Chiadò-Piat L; Saggiorato C; Ugo I; Hoffman EP Acta Neuropathol; 1999 Jun; 97(6):657-60. PubMed ID: 10378386 [TBL] [Abstract][Full Text] [Related]