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Distal arthrogryposis: clinical and genetic findings
Department of Women’s and Children’s Health, Uppsala University Children’s Hospital, Uppsala, Sweden / Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID-id: 0000-0001-8854-5213
Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
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2012 (Engelska)Ingår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 101, nr 8, s. 877-887Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

AIM: Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype-phenotype correlation.

METHOD: We investigated 39 patients from 21 families. Clinical history, including neonatal findings, joint involvement and motor function, was documented. Clinical examination was performed including evaluation of muscle strength. Molecular genetic investigations were carried out in 19 index cases. Muscle biopsies from 17 patients were analysed.

RESULTS: A pathogenic mutation was found in six families with 19 affected family members with autosomal dominant inheritance and in one child with sporadic occurrence. In three families and in one child with sporadic form, the identified mutation was de novo. Muscle weakness was found in 17 patients. Ambulation was affected in four patients and hand function in 28. Fourteen patients reported pain related to muscle and joint affection.

CONCLUSION: The clinical findings were highly variable between families and also within families. Mutations in the same gene were found in different syndromes suggesting varying clinical penetrance and expression, and different gene mutations were found in the same clinical syndrome demonstrating genetic heterogeneity.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2012. Vol. 101, nr 8, s. 877-887
Nationell ämneskategori
Neurologi
Forskningsämne
Medicin
Identifikatorer
URN: urn:nbn:se:his:diva-11957DOI: 10.1111/j.1651-2227.2012.02708.xISI: 000306398200033PubMedID: 22519952Scopus ID: 2-s2.0-84863833179OAI: oai:DiVA.org:his-11957DiVA, id: diva2:906948
Tillgänglig från: 2016-02-25 Skapad: 2016-02-25 Senast uppdaterad: 2017-11-30Bibliografiskt granskad

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