Investigation on genetic heterogeneity in Duchenne muscular dystrophy

Rabbi-Bortolini, Eliete; Zatz, Mayana; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320240113

Cited by 22 publications

(9 citation statements)

References 19 publications

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“…The association of BMD with mental retardation (MR) has been reported in a few patients [Zellweger and Hanson, 1967;Shaw and Dreifuss, 1969;Emery and Skinner, 19761 but has not been confirmed in controlled studies. On the other hand, the association of DMD with MR is well established and affects from 20 to 50% of DMD patients [Emery, 1987;Rabbi-Bortolini and Zatz, 1986;Rapaport et al, 19911. The discovery of a brain isoform of dystrophin [Chelly et al, 1990;Lidov et al, 19901 might supply an organic basis for the eventual association of BMD with mental disorders.…”

Section: Introductionmentioning

confidence: 99%

Becker and limb‐girdle muscular dystrophies: A psychiatric and intellectual level comparative study

et al. 1995

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There are some indications that Becker muscular dystrophy (BMD) might be related to mental disorders and mental retardation (MR). To investigate this question, we made a standardized psychiatric and intellectual level assessment of 22 BMD patients in comparison with 22 limb-girdle muscular dystrophy (LGMD) patients. There were not significant differences between the two groups. Twelve patients (54.5%) in each group received at least one lifetime psychiatric diagnosis, the most frequent being depressive disorders. The intelligence quotient means for BMD was 85.9 and 87.8 for LGMD. There was one case of mild MR among BMD patients and two cases among LGMD patients.

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Section: Introductionmentioning

confidence: 99%

Becker and limb‐girdle muscular dystrophies: A psychiatric and intellectual level comparative study

et al. 1995

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“…Approximately 30% to 50% of Duchenne muscular dystrophy (DMD) patients have a moderate or severe nonprogressive mental retardation [Emery, 19871 with high intrafamilial correlation among affected relatives [Cohen et al, 1968;Rabbi-Bortolini and Zatz, 1986;Ogasawara, 19893. The association between mental retardation (MR) and DMD is still not understood.…”

Section: Introductionmentioning

confidence: 99%

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

et al. 1991

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A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were analysed for deletions in the central region of the dystrophin gene in order to determine if there was a correlation between mental retardation (MR) and the pattern of deletion. Approximately 43% of the patients studied had deletions with two dystrophin cDNAs, cf23a and cf56a, and among 148 patients who were mentally assessed, 50% were mentally retarded. The average IQ in the group of patients with DNA deletions did not differ significantly from those patients with no detectable deletions. However, six unrelated DMD boys with MR showed an identical pattern of deletion. Our observations in the group of patients who had detected DNA deletions suggest that exon 52 of the dystrophin gene may be functionally significant in the manifestation of MR: 70% (19/27) of patients with a deletion of this exon were mentally retarded, whereas only 38% (15/39) of MR patients had deletions not involving exon 52. This difference was statistically significant.

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“…Heterogeneity has been suggested in the past, using these parameters, by some authors,23 but not by others. 24 The features of DMD and BMD were seen as a spectrum, with some BMD cases quite severely affected. There was considerable clinical resemblance within families, both in the presence or absence of obvious mental handicap and in the general severity of the muscle disease.…”

Section: Discussionmentioning

confidence: 99%

The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.

Hodgson¹,

Walker²,

Cole³

et al. 1987

Journal of Medical Genetics

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SUMMARY A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intrafamilial resemblance in the severity of the disease.We estimate that a complete study of potential carriers in these families would require analysis of samples from approximately 1400 subjects.

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Investigation on genetic heterogeneity in Duchenne muscular dystrophy

Cited by 22 publications

References 19 publications

Becker and limb‐girdle muscular dystrophies: A psychiatric and intellectual level comparative study

Becker and limb‐girdle muscular dystrophies: A psychiatric and intellectual level comparative study

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.

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