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Literature DB >> 844870

Duchenne muscular dystrophy. A population study.

G A Danieli, M L Mostacciuolo, A Bonfante, C Angelini.

Abstract

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Entities: Chemical

Mesh：

Year: 1977 PMID： 844870 DOI： 10.1007/BF00393974

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. [PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE].

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Journal: Schweiz Med Wochenschr Date: 1964-11-14

2. Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

Authors: H BLYTH; R J PUGH
Journal: Ann Hum Genet Date: 1959-04 Impact factor: 1.670

3. Formal genetics of muscular dystrophy.

Authors: N E MORTON; C S CHUNG
Journal: Am J Hum Genet Date: 1959-12 Impact factor: 11.025

4. On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies.

Authors: J N WALTON; R R RACE; U PHILIP
Journal: Ann Hum Genet Date: 1955-08 Impact factor: 1.670

5. [Estimation of mutation rate in muscular dystrophy].

Authors: P E BECKER; F LENZ
Journal: Z Mensch Vererb Konstitutionsl Date: 1955

6. On the classification, natural history and treatment of the myopathies.

Authors: J N WALTON; F J NATTRASS
Journal: Brain Date: 1954 Impact factor: 13.501

7. Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

Authors: F E STEPHENS; F H TYLER
Journal: Am J Hum Genet Date: 1951-06 Impact factor: 11.025

8. Genetic-epidemiological studies in progressive muscular dystrophy.

Authors: J Prot
Journal: J Med Genet Date: 1971-03 Impact factor: 6.318

9. Mutation rate in Duchenne type of muscular dystrophy.

Authors: D Gardner-Medwin
Journal: J Med Genet Date: 1970-12 Impact factor: 6.318

10. The detection of carriers of X-linked muscular dystrophy genes. A review of some methods studied in Newcastle upon Tyne.

Authors: D Gardner-Medwin; R J Pennington; J N Walton
Journal: J Neurol Sci Date: 1971-08 Impact factor: 3.181

14 in total

1. Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.

Authors: Yingyin Liang; Songlin Chen; Jianzong Zhu; Xiangxue Zhou; Chen Yang; Lu Yao; Cheng Zhang
Journal: Bosn J Basic Med Sci Date: 2015-05-20 Impact factor: 3.363

2. Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.

Authors: Yetrib Hathout; Ramya L Marathi; Sree Rayavarapu; Aiping Zhang; Kristy J Brown; Haeri Seol; Heather Gordish-Dressman; Sebahattin Cirak; Luca Bello; Kanneboyina Nagaraju; Terry Partridge; Eric P Hoffman; Shin'ichi Takeda; Jean K Mah; Erik Henricson; Craig McDonald
Journal: Hum Mol Genet Date: 2014-07-15 Impact factor: 6.150

Review 3. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors: H Moser
Journal: Hum Genet Date: 1984 Impact factor: 4.132

4. Duchenne muscular dystrophy: data from family studies.

Authors: G A Danieli; M L Mostacciuolo; G Pilotto; C Angelini; A Bonfante
Journal: Hum Genet Date: 1980 Impact factor: 4.132

5. Effects of reproductive compensation and genetic drift on X-linked lethals.

Authors: K Lange; K Gladstien; M Zatz
Journal: Am J Hum Genet Date: 1978-03 Impact factor: 11.025

6. Duchenne muscular dystrophy. Frequency of sporadic cases.

Authors: G A Danieli; G Barbujani
Journal: Hum Genet Date: 1984 Impact factor: 4.132

7. Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

Authors: C R Müller; T Grimm
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132