Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Fecha de publicación: Fecha Ahead of Print:

Autores de CIPF

Participantes ajenos a CIPF

  • Armirola-Ricaurte C
  • Zonnekein N
  • Koutsis G
  • Amor-Barris S
  • Pelayo-Negro AL
  • Atkinson D
  • Efthymiou S
  • Turchetti V
  • Dinopoulos A
  • Garcia A
  • Karakaya M
  • Moris G
  • Polat AI
  • Yis U
  • Van de Vondel L
  • De Vriendt E
  • Karadima G
  • Wirth B
  • Hanna M
  • Houlden H
  • Berciano J
  • Jordanova A

Grupos de Investigación

Abstract

We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype.

Datos de la publicación

ISSN/ISSNe:
1098-3600, 1530-0366

GENETICS IN MEDICINE  Nature Publishing Group

Tipo:
Article
Páginas:
101117-101117
PubMed:
38459834

Citas Recibidas en Web of Science: 2

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Keywords

  • Charcot-Marie-Tooth, Mitochondrial disorders, NDUFS6, Peripheral neuropathy, Splicing

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