Literature DB >> 8530947

Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.

D Malapert1, D Recan, F Leturcq, J D Degos, R K Gherardi.   

Abstract

A 25 year old woman, without family history of muscular dystrophy, had had an isolated lower limb hypertrophy since infancy and later experienced exercise-induced myalgia. Genomic DNA analysis showed a deletion of exons 45 to 52 of the dystrophin gene. Uncommon phenotypes of dystrophinopathies and consequences in genetic counselling in women are emphasised.

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Year:  1995        PMID： 8530947      PMCID： PMC1073725          DOI： 10.1136/jnnp.59.5.552

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  26 in total

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  2 in total

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Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

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Journal:  Muscle Nerve       Date:  2010-12       Impact factor: 3.217
  2 in total

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