A new family with transportinopathy: increased clinical heterogeneity.
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ABSTRACT:
SUBMITTER: Angelini C
PROVIDER: S-EPMC6558532 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
A new family with transportinopathy: increased clinical heterogeneity.
Angelini Corrado C Marozzo Roberta R Pinzan Elena E Pegoraro Valentina V Molnar Maria Judit MJ Torella Annalaura A Nigro Vincenzo V
Therapeutic advances in neurological disorders 20190609
We describe a family with a novel TNPO3 mutation of limb-girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate ...[more]
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