Literature DB >> 2732990

Benign muscular dystrophy: risk calculation in families with consanguinity.

G Wolff1, C R Müller, T Grimm.   

Abstract

This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated using pedigree information, results of serum creatine kinase determinations, and also, in one family, results of DNA typing using RFLPs from the short arm of the X chromosome.

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Year:  1989        PMID: 2732990      PMCID: PMC1015595          DOI: 10.1136/jmg.26.5.299

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


  7 in total

1.  The detection of carriers of benign (Becker-type) X-linked muscular dystrophy.

Authors:  R Skinner; A E Emery; A J Anderson; C Foxall
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318

2.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

3.  Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations.

Authors:  T Grimm
Journal:  Am J Med Genet       Date:  1984-08

4.  Genetic counseling in Becker type X-linked muscular dystrophy. I. Theoretical considerations.

Authors:  T Grimm
Journal:  Am J Med Genet       Date:  1984-08

5.  Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.

Authors:  E Bakker; M H Hofker; N Goor; J L Mandel; K Wrogemann; K E Davies; L M Kunkel; H F Willard; W A Fenton; L Sandkuyl
Journal:  Lancet       Date:  1985-03-23       Impact factor: 79.321

6.  Autosomal recessive or sex linked recessive: a counselling dilemma.

Authors:  I D Young; Z Nugent; T Grimm
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

7.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962

  7 in total
  1 in total

1.  X linked or autosomal recessive? A new approach to an old problem.

Authors:  A P Read
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

  1 in total

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