Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene

Kreß, Wolfram; Müller, Elvira; Kausch, Katrin; Kullmann, Frank; Mostacciuolo, M. L.; Rietschel, Marcella; Rotthauwe, H. W.; Schmalenberger, B; Siciliano, Gabriele; Voït, Thomas

doi:10.1016/0960-8966(92)90042-5

Cited by 13 publications

(5 citation statements)

References 21 publications

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“…Conflicting data from another family apparently mapping EMD distal to F8C22 has recently been withdrawn after review of the clinical status of the relevant family members. 23 All the current data are therefore consistent in placing EMD between DXS15/DXS52 and F8C. This location is supported by odds of 120:1 in the LINKMAP analysis presented here incorporating published data for which haplotype information is available.…”

Section: Discussionsupporting

confidence: 79%

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates

Warner²,

Smith³

et al. 1993

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 79%

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates

Warner²,

Smith³

et al. 1993

Journal of Medical Genetics

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“…The gene for EDMD has recently been mapped to Xq28 8,12 long distal arm with clear evidence of genetic heterogeneity in EDMD. A number of families have been reported which fit an autossomal dominant pattern of inheritance.…”

Section: Discussion Discussionmentioning

confidence: 99%

“…Thus, early disease diagnosis would make it possible for affected individuals to have a longer survival , besides allowing detection of carriers by means of molecular biology techniques and linkage analysis 8 . Although EDMD is not such a disabling disorder physically as the Duchenne and Becker forms, the combination of progressive muscle weakness and, in particular, the serious cardiac complications result in considerable morbidity and at times mortality, so that accurate identification of carrier status and prenatal prediction using closely linked probes 8,12 should be of help to family members.…”

Section: Discussion Discussionmentioning

confidence: 99%

Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report)

Carvalho

Levy

Gutierrez

et al. 2000

Arq. Neuro-Psiquiatr.

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We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old. At age 26 he developed tachycardia episodes. A complex arrhythmia was discovered, and a nodal ablation was done with a cardiac pacemaker implanted. The patient had an arrhythmia and sudden death followed this. Emery-Dreifuss muscular dystrophy is a rare recessive X-linked muscular disorder where mixed patterns in electromyography and muscle histology (neurogenic and/or myopathic) have caused nosological confusion. The autopsy findings are here described and correlated to the clinical features in an attempt to better understand the ambiguous findings concerning the process etiology.

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“…61). Also in the gene-rich region of distal Xq28 are the genes for congenital nephrogenic diabetes insipidus [the report of Seibold et al (1992) is added to those in CCM92] and tile putative location for Emery-Dreifuss muscular dystrophy (Wehnert et al, 1991;Kress et al, 1992;Cole et al, 1992;Yates et al, 1993). The linkage between manic depression and X-chromosome markers has, however, become weaker (Baron et al, 1993).…”

Section: 'mentioning

confidence: 99%