Results 71 to 80 of about 1,101 (163)

distal myopathy [PDF]

, 2001
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement.
박윤길
core  

Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]

, 2000
We report 21 French patients (12 males and 9 females), presenting a distal myopathy of Miyoshi type. The main clinical features of these patients were 1) onset in late adolescence or early adulthood (mean age: 20.3 years), 2) early and predominant ...
Leroy, J. P., Hauw, J. J., Beckmann, J., Eymard, B., Richard, I., Laforet, P., Tome, F. M., Collin, H., Fardeau, M.   +8 more
core  

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

Proceedings of the Japan Academy, Series B, 1999
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no
MATSUMURA, Tsuyoshi, AOKI, Masashi, NAGANO, Atsushi, HAYASHI, Yukiko K., ASADA, Chie, OGAWA, Megumu, YAMANAKA, Gaku, GOTO, Kanako, NAKAGAWA, Masanori, OKA, Hisayoshi, SAHASHI, Ko, KOUHARA, Nobuo, SAITO, Yuko, BROWN, Robert H., NONAKA, Ikuya, ARAHATA, Kiichi   +15 more
openaire   +2 more sources

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

Journal of Arrhythmia, Volume 41, Issue 2, April 2025.
wiley   +1 more source

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

, 2011
Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
Shaw, Pamela J., Greenberg, Cheryl R., Pyle, Ângela, Goebel, Hans H., Pollitt, Christine, Davison, Keith, Beckmann, Jacques S., Keers, Sharon, Bashir, Rumaisa, Pogue, Robert, Vafiadaki, Elizabeth, Moss, Jennifer A., Bertorini, Túlio, Mahjneh, Ibrahim, Anderson, Louise V.B., Argov, Zohar, Wrogemann, Klaus, Harrison, Ruth M., Bushby, Kate M.D.   +18 more
core  

Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]

, 2009
The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
core  

Full-length dysferlin expression driven by engineered human dystrophic blood-derived CD133+ stem cells

, 2013
The protein dysferlin is abundantly expressed in skeletal and cardiac muscles, where its main function is membrane repair. Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb-girdle ...
N. Wein, L. Garcia, Yvan Torrente, D. Parolini, C. Sitzia, Marzia Belicchi, D. Parazzoli, Clementina Sitzia, E. Montani, Claire Navarro, Daniele Parolini, Luis Garcia, A. Farini, Cyriaque Beley, C. Navarro, Mirella Meregalli, P. Razini, Letizia Cassinelli, L. Cassinelli, Andrea Farini, Erica Montani, M. Belicchi, C. Beley, Y. Torrente, Dario Parazzoli, Nicolas Wein, M. Meregalli, Paola Razini   +27 more
core   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

, 2011
Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B.
Carlos Pizzarossa, Emilia Vieira, Veronique Labelle, Luís Negrão, Pizzarossa, Carlos, Panuncio, Ana, France Leturcq, Nicolas Lévy, Mesa, Rosário, Rosário Santos, Luisa Carrasco, Krahn, Martin, Maria-Mirta Rodriguez, Carrasco, Luisa, Ana Panuncio, Rodriguez, Maria-Mirta, Negrão, Luis, Santos, Rosário, Bronze-da-Rocha, Elsa, Vieira, Emília, Luis Vernengo, Oliveira, Jorge, Lévy, Nicolas, Elsa Bronze-da-Rocha, Labelle, Veronique, Rosario Mesa, Leturcq, France, Martin Krahn, Vernengo, Luis, Jorge Oliveira   +29 more
core   +1 more source