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

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 850-855

  Voermans, N C ^a   Kempers, M ^a   Lammens, M ^a   Van Alfen, N ^a   Janssen, M C ^a   Bonnemann C ^b   Van Engelen, B G ^a   Hamel, B C ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Adducted thumb clubfoot syndrome; CHST14; Connective tissue; Delayed motor development; Ehlers Danlos syndrome; Muscle biopsy; Musculocontractural Ehlers Danlos syndrome; Myopathy; Neuromuscular features

Indexed keywords

CALCIUM; COLECALCIFEROL; CREATINE KINASE; DERMATAN 4 O SULFOTRANSFERASE 1; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHST14 GENE; CLUBFOOT; ECHOGRAPHY; EHLERS DANLOS SYNDROME; ELECTROMYOGRAPHY; ENZYME DEFICIENCY; FATIGUE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOPLASIA; JOINT CONTRACTURE; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; MYOPIA; NERVE POTENTIAL; OSTEOPENIA; PLOD1 GENE; PRIORITY JOURNAL; SENSORY DYSFUNCTION; WALKING DIFFICULTY;

EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MUSCLE WEAKNESS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SULFOTRANSFERASES; YOUNG ADULT;

EID: 84858996757     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35232     Document Type: Article

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