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Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226de1) in axonal Charcot-Marie-Tooth disease

Fecha de publicación:

Autores de CIPF

Participantes ajenos a CIPF

  • Garcia-Sobrino, T
  • Blanco-Arias, P
  • Ramirez, L
  • Estela, A
  • Milian, BS
  • Arias, M
  • Sobrido, MJ
  • Pardo, J

Grupos de Investigación

Abstract

There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with variable CMTNS score in both families. Several individuals were asymptomatic or had paraesthesia only, however neurological examination and nerve conduction studies demonstrated neuropathic signs. Transfection of HeLa cells with the p.R226del mutation led to an increased mitochondrial aggregation. We report an AD-CMT2K with large phenotypic variability due to a novel dominant GDAP1 variant. This is the second founder GDAP1 pathogenic variant reported in Spain. (C) 2017 Elsevier B.V. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
0960-8966, 1873-2364

NEUROMUSCULAR DISORDERS  PERGAMON-ELSEVIER SCIENCE LTD

Tipo:
Article
Páginas:
667-672
PubMed:
28236508

Citas Recibidas en Web of Science: 9

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Keywords

  • Charcot-Marie-Tooth; CMT2K; GDAP1 variants; Pathogenic mutation; Hereditary neuropathy

Campos de Estudio

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