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Literature DB >> 2716035

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

G K Suthers¹, J I Manson, L M Stern, E A Haan, J C Mulley.

Abstract

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.

Entities: Disease Species

Mesh：

Substances：
Creatine Kinase

Year: 1989 PMID： 2716035 PMCID： PMC1017298 DOI： 10.1136/jmg.26.4.251

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

15 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. Sex chromatin pattern in seminiferous tubule dysgenesis and other testicular disorders: relationship to true hermaphrodism and to Klinefelter's syndrome, with a review of gonadal ontogenesis.

Authors: M M GRUMBACH; W A BLANC; E T ENGLE
Journal: J Clin Endocrinol Metab Date: 1957-06 Impact factor: 5.958

3. The inheritance of muscular dystrophy: further observations.

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

4. Preferential deletion of exons in Duchenne and Becker muscular dystrophies.

Authors: S M Forrest; G S Cross; A Speer; D Gardner-Medwin; J Burn; K E Davies
Journal: Nature Date: 1987 Oct 15-21 Impact factor: 49.962

5. [Biochemical, histological and clinical findings in a four-year-old female carrier of benign X-linked muscular dystrophy (Becker type)].

Authors: H Moser
Journal: Humangenetik Date: 1971

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

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

2. Sex chromatin pattern in seminiferous tubule dysgenesis and other testicular disorders: relationship to true hermaphrodism and to Klinefelter's syndrome, with a review of gonadal ontogenesis.

3. The inheritance of muscular dystrophy: further observations.

4. Preferential deletion of exons in Duchenne and Becker muscular dystrophies.

5. [Biochemical, histological and clinical findings in a four-year-old female carrier of benign X-linked muscular dystrophy (Becker type)].

6. Inherited deletion at Duchenne dystrophy locus in normal male.

7. Clinical studies in benign (Becker type) X-linked muscular dystrophy.

8. Intellectual functioning in non-Duchenne muscular dystrophy.

9. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

10. Population data on benign and severe forms of X-linked muscular dystrophy.

1. Phenotypic heterogeneity and the single gene.

2. Occurrence of Duchenne dystrophy in Klinefelter's syndrome.