Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation-Reference-Cited by-同舟云学术

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Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

Published:2006-08 Issue:8 Volume:16 Page:498-503
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Arias Manuel,Pardo Julio,Blanco-Arias Patricia,Sobrido María-Jesús,Arias Susana,Dapena Dolores,Carracedo Ángel,Goldfarb Lev G.,Navarro Carmen

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases;Nakano;J Neuropathol Exp Neurol,1996

2. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins;De Bleecker;J Neuropathol Exp Neurol,1996

3. Myofibrillar myopathy;Engel;Ann Neurol,1999

4. Surplus protein myopathies;Goebel;Neuromuscul Disord,2001

5. Desmin-related neuromuscular disorders;Goebel;Muscle Nerve,1995

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1. Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C‐Terminus of segment 2B;Journal of Cellular Physiology;2024-03-19

2. Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner;Cell and Tissue Research;2023-06-06

3. Phenotypic variability within the desminopathies: A case series of three patients;Frontiers in Neurology;2023-01-16

4. Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation;Neurology;2021-07-27

5. Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2020-06

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