Hereditary motor sensory neuropathy with proximal involvement (<scp>HMSN‐P</scp>) associated with <i>TFG</i> p.<scp>Pro285Leu</scp> variant in an Italian family with a motor neuron disease‐like clinical picture-Reference-Cited by-同舟云学术

Hereditary motor sensory neuropathy with proximal involvement (HMSN‐P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture

Published:2024-03-27 Issue:6 Volume:69 Page:730-732
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle and Nerve

Author:

Cabras Sara¹²^ORCID,Di Pede Francesca¹,Canosa Antonio¹³⁴,Grassano Maurizio¹,Mongini Tiziana Enrica³⁵⁶,Gadaleta Giulio⁵^ORCID,Calvo Andrea¹³,Chiò Adriano¹³⁴⁶,Moglia Cristina¹³,Gallone Salvatore³

Affiliation:

1. ALS Center, “Rita Levi Montalcini” Department of Neuroscience University of Turin Turin Italy

2. School of Advanced Studies, Center for Neuroscience University of Camerino Camerino Italy

3. S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino Turin Italy

4. Institute of Cognitive Sciences and Technologies National Council of Research Rome Italy

5. Neuromuscular Center, “Rita Levi Montalcini” Department of Neuroscience University of Turin Turin Italy

6. ERN Euro‐NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino Turin Italy

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.28088

Reference7 articles.

1. The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

2. Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene

3. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry

4. A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

5. Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement withTFGmutation