Moser H, Emery AE: The manifesting carrier in Duchenne muscular dystrophy. Clin Genet. 1974, 5 (4): 271-284.
Article
CAS
PubMed
Google Scholar
Norman A, Harper P: A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet. 1989, 36 (1): 31-37.
Article
CAS
PubMed
Google Scholar
Comi LI, Nigro G, Politano L, Petretta VR: The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol. 1992, 34 (3): 297-305. 10.1016/0167-5273(92)90028-2.
Article
CAS
PubMed
Google Scholar
Kinoshita H, Goto Y, Ishikawa M, Uemura T, Matsumoto K, Hayashi YK, Arahata K, Nonaka I: A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom. Brain Dev. 1995, 17 (3): 202-205. 10.1016/0387-7604(95)00018-7.
Article
CAS
PubMed
Google Scholar
Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, Van Essen AJ, Brunner HG, van der Wouw PA, Wilde AA, de Visser M: Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study. Lancet. 1999, 353: 2116-2119. 10.1016/S0140-6736(98)10028-4.
Article
CAS
PubMed
Google Scholar
Chelly J, Marlhens F, Le Marec B, Jeanpierre M, Lambert M, Hamard G, Dutrillaux B, Kaplan JC: De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. Hum Genet. 1986, 74 (2): 193-196. 10.1007/BF00282093.
Article
CAS
PubMed
Google Scholar
Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW: Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet. 1997, 60 (1): 160-165.
CAS
PubMed
PubMed Central
Google Scholar
Puck JM, Willard HF: X inactivation in females with X-linked disease. N Engl J Med. 1998, 338 (5): 325-8.9.
Article
CAS
PubMed
Google Scholar
Brown CJ, Robinson WP: The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet. 2000, 58 (5): 353-6.10.
Article
CAS
PubMed
Google Scholar
Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I: Muscular dystrophy in girls with X;autosome translocations. J Med Genet. 1986, 23 (6): 484-490. 10.1136/jmg.23.6.484.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wenger SL, Steele MW, Hoffman EP, Barmada MA, Wessel HB: X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. Am J Med Genet. 1992, 43 (6): 1012-1015. 10.1002/ajmg.1320430619.
Article
CAS
PubMed
Google Scholar
Pena SD, Karpati G, Carpenter S, Fraser FC: The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J Neurol Sci. 1987, 79 (3): 337-344. 10.1016/0022-510X(87)90240-1.
Article
CAS
PubMed
Google Scholar
Bonilla E, Younger DS, Chang HW, Tantravahi U, Miranda AF, Medori R, DiMauro S, Warburton D, Rowland LP: Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy. Neurology. 1990, 40 (8): 1267-1270. 10.1212/WNL.40.8.1267.
Article
CAS
PubMed
Google Scholar
Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM: Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet. 1990, 46 (4): 672-681.
CAS
PubMed
PubMed Central
Google Scholar
Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg MR, Carroll JE, Taber JW, Wessel HB, Bauserman SC, Marks WA, Toriello HV, Higgins JV, Appleton S, Schwartz L, Garcia CA, Hoffman EP: Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet. 1994, 54 (6): 989-1003.
CAS
PubMed
PubMed Central
Google Scholar
Azofeifa J, Voit T, Hübner C, Cremer M: X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet. 1995, 96 (2): 167-176. 10.1007/BF00207374.
Article
CAS
PubMed
Google Scholar
Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner-Medwin D: Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 1993, 3 (1): 57-64. 10.1016/0960-8966(93)90042-I.
Article
CAS
PubMed
Google Scholar
Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Cánovas M, Otto PA, Passos-Bueno MR, Zatz M: Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet. 1998, 80 (4): 356-361. 10.1002/(SICI)1096-8628(19981204)80:4<356::AID-AJMG10>3.0.CO;2-O.
Article
CAS
PubMed
Google Scholar
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM: Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010, 20 (8): 499-504. 10.1016/j.nmd.2010.05.010.
Article
PubMed
PubMed Central
Google Scholar
Seemann N, Selby K, McAdam L, Biggar D, Kolski H, Goobie S, Yoon G, Campbell C, Canadian Pediatric Neuromuscular Group: Symptomatic dystrophinopathies in female children. Neuromuscul Disord. 2011, 21 (3): 172-7. 10.1016/j.nmd.2010.11.001.
Article
PubMed
Google Scholar
Matthews PM, Benjamin D, Van Bakel I, Squier MV, Nicholson LV, Sewry C, Barnes PR, Hopkin J, Brown R, Hilton-Jones D, Boyd Y, Karpati G, Brown GK, Craig IW: Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord. 1995, 5 (3): 209-220. 10.1016/0960-8966(94)00057-G.
Article
CAS
PubMed
Google Scholar
Schwartz M, Duno M: Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test. 2004, 8 (4): 361-367. 10.1089/gte.2004.8.361.
Article
CAS
PubMed
Google Scholar
Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A: Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. Gene. 2006, 370: 26-33.
Article
CAS
PubMed
Google Scholar
Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A: A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008, 9: 572-582. 10.1186/1471-2164-9-572.
Article
PubMed
PubMed Central
Google Scholar
Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF: X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet. 2006, 79 (3): 493-499. 10.1086/507565.
Article
CAS
PubMed
PubMed Central
Google Scholar
Brown R, Jarvis K, Hyland K: Protein measurement using bicinchoninic acid: elimination of interfering substances. Anal Biochem. 1989, 180: 136-139. 10.1016/0003-2697(89)90101-2.
Article
CAS
PubMed
Google Scholar
Hoogerwaard EM, Ginjaar IB, Bakker E, de Visser M: Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology. 2005, 65 (12): 1984-1986. 10.1212/01.wnl.0000188909.89849.59.
Article
CAS
PubMed
Google Scholar
Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP: Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology. 1995, 45 (4): 677-690. 10.1212/WNL.45.4.677.
Article
CAS
PubMed
Google Scholar
Muntoni F, Mateddu A, Marrosu MG, Cau M, Congiu R, Melis MA, Cao A, Cianchetti C: Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier. Clin Genet. 1992, 42 (1): 35-38.
Article
CAS
PubMed
Google Scholar
Orstavik KH, Scheibel E, Ingerslev J, Schwartz M: Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B. Thromb Haemost. 2000, 83 (3): 433-7.
CAS
PubMed
Google Scholar
Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC: Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl. 2006, 95 (451): 30-8.
Article
PubMed
Google Scholar
Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik KH, Wallgren-Pettersson C: X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord. 2003, 13 (6): 468-71. 10.1016/S0960-8966(03)00067-1.
Article
CAS
PubMed
Google Scholar
Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM, McDonald CM, Cooperative International Neuromuscular Research Group: SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology. 2011, 76 (3): 219-26. 10.1212/WNL.0b013e318207afeb.
Article
CAS
PubMed
Google Scholar