scholarly journals Congenital muscular dystrophy with intellectual disability and severe epilepsy

2020 ◽  
Author(s):  
Keyword(s):  
Intellectual Disability ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Severe Epilepsy

EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy

2009 ◽  
Vol 19 (8-9) ◽  
pp. 553
Author(s):  
S. Messina ◽  
G. Tortorella ◽  
M. Spanò ◽  
D. Concolino ◽  
A. d’Amico ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Cerebellar Hypoplasia ◽  
Severe Epilepsy

POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

2014 ◽  
Vol 51 (4) ◽  
pp. 275-282 ◽  
Author(s):  
Anja von Renesse ◽  
Mina V Petkova ◽  
Susanne Lützkendorf ◽  
Jan Heinemeyer ◽  
Esther Gill ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency

P.347Urinary titin fragment in Fukuyama congenital muscular dystrophy

2019 ◽  
Vol 29 ◽  
pp. S168-S169
Author(s):  
T. Sato ◽  
N. Taniguchi ◽  
K. Ishiguro ◽  
M. Shichiji ◽  
T. Murakami ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy

scholarly journals Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

2021 ◽  
Vol 22 (8) ◽  
pp. 4256
Author(s):  
Lorenzo Maggi ◽  
Manolis Mavroidis ◽  
Stelios Psarras ◽  
Yassemi Capetanaki ◽  
Giovanna Lattanzi
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Muscle ◽  
Intermediate Filament ◽  
Striated Muscle ◽  
Congenital Muscular Dystrophy ◽  
Left Ventricular ◽  
Intermediate Filament Proteins ◽  
Muscle Disorders ◽  
Genes Encoding ◽  
Molecular Aspects

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, hypertrophic, arrhythmogenic, or even left ventricular non-compaction cardiomyopathy, Emery–Dreifuss Muscular Dystrophy (EDMD2 and EDMD3, due to LMNA mutations), LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A). Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.

Immunofluorescent Autopsy Study of Congenital Muscular Dystrophy

2008 ◽  
Vol 24 (2) ◽  
pp. 194-196 ◽  
Author(s):  
Yoji Kusuyama ◽  
Hirokazu Nakamine ◽  
Toru Nishihara ◽  
Koji Saito ◽  
Hitoshi Kawamura ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Autopsy Study
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