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Literature DB >> 739522

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.

Abstract

Using a number of different methods, it is confirmed that approximately one third of all cases of X-linked Duchenne muscular dystrophy are new mutants, the remainder being sons of carriers.

Entities: Disease

Mesh：

Year: 1978 PMID： 739522 PMCID： PMC1013728 DOI： 10.1136/jmg.15.5.339

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

27 in total

1. SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY.

Authors: J M PEARCE; R J PENNINGTON; J N WALTON
Journal: J Neurol Neurosurg Psychiatry Date: 1964-06 Impact factor: 10.154

2. MUSCULAR DYSTROPHY IN NORTHERN IRELAND. V. THE PROGRESS OF THE DISORDER IN BOYS WITH SEX-LINKED MUSCULAR DYSTROPHY WHO WERE FIRST STUDIED BETWEEN 1949 AND 1958.

Authors: A C STEVENSON
Journal: Ann Hum Genet Date: 1964-06 Impact factor: 1.670

3. [CLINICAL AND BIOCHEMICAL STUDIES IN MYOPATHIES. I. SERUM ENZYMES IN PROGRESSIVE MUSCULAR DYSTROPHY (TYPE I, II, IIIA)].

Authors: H W ROTTHAUWE; S KOWALEWSKI
Journal: Klin Wochenschr Date: 1965-02-01

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

Authors: H MOSER; U WIESMANN; R RICHTERICH; E ROSSI
Journal: Schweiz Med Wochenschr Date: 1964-11-14

5. X-chromosome mosaicism in females with muscular dystrophy.

Authors: C M PEARSON; W M FOWLER; S W WRIGHT
Journal: Proc Natl Acad Sci U S A Date: 1963-07 Impact factor: 11.205

6. Genetic tests under incomplete ascertainment.

Authors: N E MORTON
Journal: Am J Hum Genet Date: 1959-03 Impact factor: 11.025

7. 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

8. Formal genetics of muscular dystrophy.

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

9. Muscular dystrophy in Northern Ireland. IV. Some additional data.

Authors: A C STEVENSON
Journal: Ann Hum Genet Date: 1958-05 Impact factor: 1.670

10. The inheritance of muscular dystrophy: further observations.

Authors: J N WALTON
Journal: Ann Hum Genet Date: 1956-07 Impact factor: 1.670

26 in total

1. Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors: A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal: J Med Genet Date: 1991-10 Impact factor: 6.318

2. Unstable mutation in incontinentia pigmenti?

Authors: E Hatchwell
Journal: J Med Genet Date: 1996-04 Impact factor: 6.318

3. On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.

Authors: E R Karel; G J te Meerman; L P Ten Kate
Journal: Am J Hum Genet Date: 1986-06 Impact factor: 11.025

4. Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

Authors: T Ried; V Mahler; P Vogt; L Blonden; G J van Ommen; T Cremer; M Cremer
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

Review 10. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors: Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal: Hum Genet Date: 2016-04-21 Impact factor: 4.132