Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

[1]  G. Clarke,et al.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. , 1979, Journal of medical genetics.

[2]  M. Yoshioka Clinically manifesting carriers in Duchenne muscular dystrophy , 1981, Clinical genetics.

[3]  I. Kaitila,et al.  Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance , 1985, Clinical genetics.

[4]  J. Miller,et al.  Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection , 1985, Muscle & nerve.

[5]  M. Yoshioka,et al.  Clinical and genetic studies of muscular dystrophy in young girls , 1986, Clinical genetics.

[6]  C. van Broeckhoven,et al.  Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. , 1989, American journal of human genetics.

[7]  T. Tsukahara,et al.  Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. , 1989, The New England journal of medicine.

[8]  V. Dubowitz,et al.  Manifesting carriers of Xp21 muscular dystrophy; Lack of correlation between dystrophin expression and clinical weakness , 1993, Neuromuscular Disorders.

[9]  H. Yamamoto,et al.  Heterogeneity of dystrophin-associated proteins. , 1993, Journal of biochemistry.

[10]  A. Agustí,et al.  Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy. , 1994, The European respiratory journal.

[11]  W. McNicholas,et al.  Impact of sleep in respiratory failure. , 1997, The European respiratory journal.

[12]  Matilde Ruiz García,et al.  Distrofia muscular de Duchenne , 1998 .

[13]  E Bakker,et al.  Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study , 1999, The Lancet.

[14]  Johan T den Dunnen,et al.  Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. , 2002, American journal of human genetics.

[15]  David Gozal,et al.  Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. , 2004, American journal of respiratory and critical care medicine.

[16]  V. Maloney,et al.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. , 2005, American journal of human genetics.

[17]  C. Dakin,et al.  Sleep‐related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population , 2005, Journal of paediatrics and child health.

[18]  C. L. Webb Parents' perspectives on coping with Duchenne muscular dystrophy. , 2005, Child: care, health and development.

[19]  J. T. Dunnen,et al.  Copy number variation in the genome; the human DMD gene as an example , 2006, Cytogenetic and Genome Research.

[20]  J. T. Dunnen,et al.  Duplications in the DMD gene , 2006, Human mutation.

[21]  C. Béroud,et al.  Protein‐ and mRNA‐based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene , 2007, Human mutation.

[22]  Ângela Maria Sirena Alpino,et al.  Contribuição da Fisioterapia para o bem-estar e a participação de dois alunos com Distrofia Muscular de Duchenne no ensino regular , 2008 .

[23]  J. D. den Dunnen,et al.  Array‐MLPA: comprehensive detection of deletions and duplications and its application to DMD patients , 2008, Human mutation.

[24]  F. Muntoni,et al.  Diagnosis and new treatments in muscular dystrophies , 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

[25]  J. Takanashi,et al.  Homozygous female Becker muscular dystrophy , 2009, American journal of medical genetics. Part A.

[26]  Livija Medne,et al.  Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort , 2009, Human mutation.

[27]  WeiQiang Liu,et al.  Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). , 2010, The Tohoku journal of experimental medicine.

[28]  Zhujun Zhang,et al.  Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center , 2010, Journal of Human Genetics.

[29]  L. Chimelli,et al.  Histochemistry and Morphometric Analysis of Muscle Fibers from Patients with Duchenne Muscular Dystrophy (DMD) , 2011 .