The role of defective glycosylation in congenital muscular dystrophy

2003 ◽  
Vol 20 (5) ◽  
pp. 291-300 ◽  
Author(s):  
Harry Schachter ◽  
Jiri Vajsar ◽  
Wenli Zhang
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy

scholarly journals A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation

2008 ◽  
Vol 89 (5) ◽  
pp. 332-341 ◽  
Author(s):  
Tomoko Yamamoto ◽  
Yoichiro Kato ◽  
Noriyuki Shibata ◽  
Tatsuo Sawada ◽  
Makiko Osawa ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Muscular Dystrophy ◽  
Cancer Cells ◽  
Congenital Muscular Dystrophy ◽  
Suppress Cell Proliferation

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

1997 ◽  
Vol 99 (4) ◽  
pp. 535-540 ◽  
Author(s):  
Isam Naom ◽  
Mariella D'Alessandro ◽  
Caroline Sewry ◽  
Alessandra Ferlini ◽  
Haluk Topaloglu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Linkage Analysis ◽  
Congenital Muscular Dystrophy

CONGENITAL MUSCULAR DYSTROPHY. CARE OF CHILDREN AND FAMILIES

1998 ◽  
Vol 30 (0) ◽  
pp. 53-57
Author(s):  
Karin Edebol Eeg-Olofsson
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Children And Families

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.

Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?

2021 ◽  
pp. 1-5
Author(s):  
Gian Luca Vita ◽  
Luisa Politano ◽  
Angela Berardinelli ◽  
Giuseppe Vita
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Systematic Investigation ◽  
Mdx Mice ◽  
True Incidence ◽  
Patients With Cancer ◽  
Dmd Gene ◽  
Age Range ◽  
Prevalence Of Cancer

Background: Increasing evidence suggests that Duchenne muscular dystrophy (DMD) gene is involved in the occurrence of different types of cancer. Moreover, development of sarcomas was reported in mdx mice, the murine model of DMD, in older age. So far, nine isolated DMD patients were reported with concomitant cancer, four of whom with rhabdomyosarcoma (RMS), but no systematic investigation was performed about the true incidence of cancer in DMD. Methods: All members of the Italian Association of Myology were asked about the occurrence of cancer in their DMD patients in the last 30 years. Results: Four DMD patients with cancer were reported after checking 2455 medical records. One developed brain tumour at the age of 35 years. Two patients had alveolar RMS at 14 and 17 years of age. The fourth patient had a benign enchondroma when 11-year-old. Conclusion: Prevalence of cancer in general in the Italian DMD patients does not seem to be different from that in the general population with the same age range. Although the small numbers herein presented do not allow definitive conclusion, the frequent occurrence of RMS in DMD patients raises an alert for basic researchers and clinicians. The role of DMD gene in cancer merits further investigations.

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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