Research paperVariability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy
References (39)
- et al.
The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins
J Neurol Sci
(1987) - et al.
Dystrophin in skeletal muscle: I. Western blot analysis using a monoclonal antibody
J Neurol Sci
(1989) - et al.
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining
Neuromusc Disord
(1992) - et al.
Characterisation of dystrophin in carriers of Duchenne muscular dystrophy
J Neurol Sci
(1991) Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
Nature
(1986)- et al.
The manifesting carrier in Duchenne muscular dystrophy
Clin Genet
(1974) - et al.
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
Clin Genet
(1989) Myopathic changes in muscular dystrophy carriers
- et al.
The detection of carriers of X-linked muscular dystrophy. A review of some methods studied in Newcastle upon Tyne
J Neurol Sci
(1971) - et al.
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy
Clin Genet
(1986)
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
Nature
Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins
Neurology
Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy
Neurology
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy
Neurology
Duchenne muscular dystrophy in one of monozygotic twin girls
J Med Genet
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
Am J Hum Genet
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. 1. Natural history
J Neurol
Manual for the Weschler Intelligence Scale for Children (Revised)
Practical stereological methods for morphometric cytology
J Cell Biol
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2024, Progress in NeurobiologyClinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
2023, Neuromuscular DisordersRetinal dystrophins and the retinopathy of Duchenne muscular dystrophy
2023, Progress in Retinal and Eye ResearchCitation Excerpt :Most of the male patients receive the defective gene from their mother, but one third of cases are caused by de novo mutations (Zatz et al., 1977). Heterozygous female carriers can show disease manifestations that may involve the muscle, the central nervous system, and/or the cardiac function (Bushby et al., 1993; Fitzgerald et al., 1999; Ishizaki et al., 2018; Lim et al., 2020; Mercier et al., 2013; Papa et al., 2016). However, because this is an allelic X-linked recessive genetic disease, estimates of frequency generally do not include affected females or female carriers.
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients
2022, Neuromuscular DisordersCitation Excerpt :Indeed, one of the most common (50% of general population) neurodevelopmental disorder in children with DMD is attention deficit hyperactivity disorder (ADHD) [4–6,9–13]. In BMD patients the cognitive functioning is usually spared whereas neurodevelopmental or behavioral comorbidities (like autistic and or inattention/hyperactivity symptoms), learning disabilities (difficulties in reading, spelling and arithmetic) and language–speech disorders are often observed [7,14,15]. In the BMD population no clear correlation between intellectual abilities and site of mutation has been found so far, but recently emotional symptoms such as anxiety were noted more frequently among patients with mutations upstream of exon 30 while other symptoms did not differ when considering mutation sites [16].
Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing
2020, International Journal of CardiologyCitation Excerpt :Female carriers should theoretically be spared from phenotypic disease given the presence of a normal DMD gene on their second X-chromosome; however, they have long been reported to demonstrate some manifestations of similar dystrophin-deficient disease. Muscle weakness, abnormal gait, fatigue and cardiac involvement have all been reported [18]. Additionally, there are overtly manifesting young female carriers who present with onset and progression of disease like affected boys that offer evidence of clinical impacts of having one abnormal gene [19].