Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene-Reference-Cited by-同舟云学术

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Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene

Published:2015-06-25 Issue:04 Volume:46 Page:282-286
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Vill Katharina¹,Kuhn Marius²,Gläser Dieter²,Walter Maggie³,Müller-Felber Wolfgang¹

Affiliation:

1. Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich, Munich, Germany

2. Genetikum Center for Human Genetics, Neu-Ulm, Germany

3. Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0035-1554100.pdf

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review;BMC Neurology;2023-06-30

2. Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series;Neuromuscular Diseases;2023-06-15

3. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review;2023-01-30

4. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome;Mitochondrion;2017-07

5. Clinical features of amyotrophic lateral sclerosis and their prognostic value;Revue Neurologique;2017-05

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