A new family with transportinopathy: increased clinical heterogeneity

Corrado Angelini, Roberta Marozzo, Elena Pinzan, Valentina Pegoraro, Maria Judit Molnar, Annalaura Torella, Vincenzo Nigro

Research output: Contribution to journalArticle

Abstract

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 their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son.

Original languageEnglish
JournalTherapeutic Advances in Neurological Disorders
Volume12
DOIs
Publication statusPublished - Jun 1 2019

Fingerprint

Karyopherins
Nuclear Family
Muscles
Mothers
Magnetic Resonance Imaging
Mutation
Myotonia Congenita
Phenotype
Proteins
Muscular Atrophy
Muscular Dystrophies
Muscle Weakness
Muscular Diseases
Atrophy
Lower Extremity
Biopsy

Keywords

  • LGMD
  • TNPO3
  • transportinopathy

ASJC Scopus subject areas

  • Pharmacology
  • Neurology
  • Clinical Neurology

Cite this

A new family with transportinopathy : increased clinical heterogeneity. / Angelini, Corrado; Marozzo, Roberta; Pinzan, Elena; Pegoraro, Valentina; Molnar, Maria Judit; Torella, Annalaura; Nigro, Vincenzo.

In: Therapeutic Advances in Neurological Disorders, Vol. 12, 01.06.2019.

Research output: Contribution to journalArticle

Angelini, Corrado ; Marozzo, Roberta ; Pinzan, Elena ; Pegoraro, Valentina ; Molnar, Maria Judit ; Torella, Annalaura ; Nigro, Vincenzo. / A new family with transportinopathy : increased clinical heterogeneity. In: Therapeutic Advances in Neurological Disorders. 2019 ; Vol. 12.
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