Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation. | Am J Med Genet A;158A(4): 850-5, 2012 Apr. | MEDLINE

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

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

Affiliation

Voermans NC; Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. n.voermans@neuro.umcn.nl

Am J Med Genet A ; 158A(4): 850-5, 2012 Apr.

Article in En | MEDLINE | ID: mdl-22407744

Subject(s)

Ehlers-Danlos Syndrome/genetics; Ehlers-Danlos Syndrome/pathology; Muscle Weakness/genetics; Sulfotransferases/genetics; Female; Humans; Polymorphism, Single Nucleotide; Sequence Deletion; Sulfotransferases/deficiency; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Sulfotransferases / Muscle Weakness / Ehlers-Danlos Syndrome Limits: Adult / Female / Humans Language: En Year: 2012 Type: Article

Search on Google

Full text: 1 Database: MEDLINE Main subject: Sulfotransferases / Muscle Weakness / Ehlers-Danlos Syndrome Limits: Adult / Female / Humans Language: En Year: 2012 Type: Article