Clinical spectrum of BICD2 mutations.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Camacho A
  • Silla R
  • Sánchez-Monteagudo A

Grupos

Abstract

Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by Magnetic Resonance Imaging (MRI). Patients may present minor clinical sensory impairment, however objective sensory involvement has yet to be demonstrated.

Datos de la publicación

ISSN/ISSNe:
1351-5101, 1468-1331

EUROPEAN JOURNAL OF NEUROLOGY  WILEY

Tipo:
Article
Páginas:
1327-1335
PubMed:
32056343
Factor de Impacto:
1,881 SCImago
Cuartil:
Q1 SCImago

Citas Recibidas en Web of Science: 14

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Keywords

  • BICD2, Charcot-Marie-Tooth, hereditary motor neuropathy, muscle magnetic resonance imaging, spinal muscular atrophy

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