Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Burns J
  • Donlevy G
  • Cornett K
  • Menezes MP

Grupos

Abstract

To describe the clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort.

Datos de la publicación

ISSN/ISSNe:
0028-3878, 1526-632X

NEUROLOGY  LIPPINCOTT WILLIAMS & WILKINS

Tipo:
Article
Páginas:
423-432
PubMed:
33067402
Factor de Impacto:
2,587 SCImago
Cuartil:
Q1 SCImago

Citas Recibidas en Web of Science: 6

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Keywords

  • SPINAL MUSCULAR-ATROPHY; MARIE-TOOTH DISEASE; ANTICODON-BINDING DOMAIN; REFERENCE VALUES; NATURAL-HISTORY; MUTATIONS; SPECTRUM; PHENOTYPE; CHILDREN

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