Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results

Stephen A. McGuire; Kenneth H. Fischbeck

doi:10.1002/mus.880141212

Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results

Stephen A. McGuire, Kenneth H. Fischbeck

Neurology

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the results of this analysis in a brother and sister who have the typical clinical features of Duchenne muscular dystrophy, but no demonstrable abnormality in dystrophin or its gene.

Original language	English (US)
Pages (from-to)	1209-1212
Number of pages	4
Journal	Muscle & Nerve
Volume	14
Issue number	12
DOIs	https://doi.org/10.1002/mus.880141212
State	Published - Dec 1991

Keywords

Duchenne muscular dystrophy
autosomal recessive muscular dystrophy
dystrophin
limb‐girdle dystrophy

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

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10.1002/mus.880141212

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abstract = "An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the results of this analysis in a brother and sister who have the typical clinical features of Duchenne muscular dystrophy, but no demonstrable abnormality in dystrophin or its gene.",

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AB - An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the results of this analysis in a brother and sister who have the typical clinical features of Duchenne muscular dystrophy, but no demonstrable abnormality in dystrophin or its gene.

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KW - limb‐girdle dystrophy

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