Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

Murray, Jeffrey; Davies, Kay E.; Ps, Harper; Meredith, Linda; Mueller, C.W.; Williamson, Robert

doi:10.1038/300069a0

Cited by 301 publications

(73 citation statements)

References 18 publications

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“…DMD can initially present with global developmental delay. 5 DMD is caused by dystrophin gene variants 6 which are inherited from female carriers in approximately two-thirds of cases 2 or occur de novo in the remaining one-third, 7 although a recent estimate suggests that the incidence of de novo variants may be as high as 50%. 8 Historical studies suggest an average age of diagnosis of DMD of 5 years in the United States and Europe, this figure remaining relatively stable over 26 years.…”

Section: Introductionmentioning

confidence: 99%

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n = 49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.

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Section: Introductionmentioning

confidence: 99%

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Wong¹,

McClaren²,

Archibald³

et al. 2015

Eur J Hum Genet

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“…myopathy that had the defect in ATPase activity was reported by Schotland et al (1976). Data on RFLPs and molecular studies of ATP synthase may be helpful for diagnosis or understanding of the mechanisms of mitochondrial diseases, as they are the other neuromuscular disorders (Gusella et al, 1984;Murray et al, 1982).…”

Section: 'mentioning

confidence: 99%

PstI fragment polymorphism in the gene of the human ATP synthase beta subunit

Hasegawa

Ohta²,

Narisawa

et al. 1987

Jap J Human Genet

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SummaryATP synthase (FoF~) is a proton-translocating ATPase which is composed of two moieties, an intrinsic membrane sector (Fo) and an extrinsic membrane sector (F1). ATP synthesis is catalyzed by the F~ beta subunit. This paper reports restriction fragment length polymorphism (RFLP) of the human Fz beta subunit gene identified with a cloned cDNA as a probe. Genomic DNAs from 27 unrelated Japanese individuals were analyzed by Southern blot hybridization. RFLP characterized by polymorphic bands at 3.2, 1.7, and 1.5 kilobase-pairs (kbp) was detected in Pstl digests of the DNAs, and three genotypes were identified. Of the 27 persons, 16 (59~) were homozygous for the 3.2 kbp band and two (8%) for both the 1.7 and 1,5kbp bands; the other nine persons (33~) were heterozygous for these bands. Mendelian inheritance of the PstI polymorphic bands was shown in 12 members in three generations of one family. The copy number of the Fa beta subunit gene was determined as one.

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“…The first probe demonstrated to show linkage to DMD was described by Murray et al (1982). The probe, RC8, was isolated from a flow-sorted chromosome library (Davies et al, 1981).…”

Section: Indirect Analysis Of Genetic Diseasementioning

confidence: 99%

An appraisal of the application of recombinant DNA techniques to chromosome defects

Ellis¹,

Davies²

1985

Biochemical Journal

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Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

Cited by 301 publications

References 18 publications

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

PstI fragment polymorphism in the gene of the human ATP synthase beta subunit

An appraisal of the application of recombinant DNA techniques to chromosome defects

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