A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging-Reference-Cited by-同舟云学术

A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

Published:2020-12-05 Issue:4 Volume:28 Page:1356-1365
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Muelas Nuria¹²³⁴^ORCID,Frasquet Marina¹²³^ORCID,Más‐Estellés Fernando⁵,Martí Pilar³⁴,Martínez‐Vicente Laura¹²³⁴,Sevilla Teresa¹²³⁴⁶,Azorín Inmaculada³⁴,Poyatos‐García Javier³,Argente‐Escrig Herminia¹²³,Vílchez Roger³⁴,Vázquez‐Costa Juan F.¹²³⁴⁶^ORCID,Bataller Luis¹²³⁴⁶,Vilchez Juan J.¹²³⁴

Affiliation:

1. Neuromuscular Diseases Unit Neurology Department Hospital Universitari I Politècnic La Fe Valencia Spain

2. Neuromuscular Reference Centre ERN‐EURO‐NMD Valencia Spain

3. Neuromuscular and Ataxias Research Group Instituto de Investigación Sanitaria La Fe Valencia Spain

4. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERERU763 Valencia Spain

5. Ascires, Neuroradiology Section Área Clínica de Imagen Médica Hospital Universitari I Politècnic La Fe Valencia Spain

6. Department of Medicine Universitat de València Valencia Spain

Funder

Instituto de Salud Carlos III

Generalitat Valenciana

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14630

Reference38 articles.

1. Autosomal dominant distal myopathy: linkage to chromosome 14;Laing NG;Am J Hum Genet,1995

2. Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

3. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

4. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

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