A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia-Reference-Cited by-同舟云学术

A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia

Published:2020-05-29 Issue:3 Volume:25 Page:303-307
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Zambon Alberto A.¹^ORCID,Pitt Matthew²,Laurà Matilde³,Polke James M.³,Reilly Mary M.³,Muntoni Francesco¹⁴

Affiliation:

1. Dubowitz Neuromuscular CentreUCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London UK

2. Department of Clinical NeurophysiologyGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

3. MRC Centre for Neuromuscular DiseasesNational Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology London UK

4. NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child HealthUniversity College London & Great Ormond Street Hospital Trust London UK

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12386

Reference15 articles.

1. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

2. Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A

5. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

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