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Literature DB >> 6490012

X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers.

B Kaladhar Reddy, T E Anandavalli, O S Reddi.

Abstract

We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosomes to be morphologically normal. We discuss different hypothetical mechanisms to account for the family pedigree.

Entities: Disease

Mesh：

Substances：
Creatine Kinase

Year: 1984 PMID： 6490012 DOI： 10.1007/bf00291412

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

17 in total

1. SEVERE MUSCULAR DYSTROPHY IN GIRLS.

Authors: H A JOHNSTON
Journal: J Med Genet Date: 1964-12 Impact factor: 6.318

2. Formal genetics of muscular dystrophy.

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

3. Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families.

Authors: A C STEVENSON
Journal: Ann Eugen Date: 1953-06

4. Duchenne muscular dystrophy in young girls?

Authors: V Ionasescu; H Zellweger
Journal: Acta Neurol Scand Date: 1974 Impact factor: 3.209

5. Muscular dystrophy in young girls.

Authors: D Gardner-Medwin
Journal: Br Med J Date: 1970-10-03

6. Hereditary myopathies.

Authors: A E Emery
Journal: Clin Orthop Relat Res Date: 1964 Mar-Apr Impact factor: 4.176

7. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

Authors: C Verellen-Dumoulin; M Freund; R De Meyer; C Laterre; J Frédéric; M W Thompson; V D Markovic; R G Worton
Journal: Hum Genet Date: 1984 Impact factor: 4.132

2. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes.

Authors: J Azofeifa; T Voit; C Hübner; M Cremer
Journal: Hum Genet Date: 1995-08 Impact factor: 4.132

2 in total

X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers.

1. SEVERE MUSCULAR DYSTROPHY IN GIRLS.

2. Formal genetics of muscular dystrophy.

3. Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families.

4. Duchenne muscular dystrophy in young girls?

5. Muscular dystrophy in young girls.

6. Hereditary myopathies.

7. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

8. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

9. Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.

10. Duchenne muscular dystrophy. A population study.

Review 1. Genetic control of X inactivation and processes leading to X-inactivation skewing.

2. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes.