Literature DB >> 22407744

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

N C Voermans1, M Kempers, M Lammens, N van Alfen, M C Janssen, C Bönnemann, B G van Engelen, B C Hamel.   

Abstract

We here report on a 20-year-old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST-1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID： 22407744      PMCID： PMC5210216          DOI： 10.1002/ajmg.a.35232

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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