Results 91 to 100 of about 4,222 (202)

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers [PDF]

, 2017
Background: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the
Campbell, Kevin P., Clark, Leigh Anne, Cox, Melissa L., Davis, Alexander G., Evans, Jacquelyn M., Guo, Ling T., Hytonen, Marjo K., Levy, Jennifer R., Lohi, Hannes, Salmela, Elina, Shelton, G. Diane, Starr-Moss, Alison N.   +11 more
core   +1 more source

Collagenase treatment does not impair fiber contractile function in muscle biopsies from children with cerebral palsy

Physiological Reports, Volume 13, Issue 21, November 2025.
Abstract Cerebral palsy (CP) often presents with increased passive stiffness of the skeletal muscles, primarily due to increased collagen in the extracellular matrix. Collagenase from Clostridium histolyticum (CCH), an enzyme that degrades collagen, is used clinically to treat fibrotic conditions such as Dupuytren's contracture and Peyronie's disease ...
Faizan Syed, Latif Omerkhil, Venus Joumaa, Jason J. Howard, Timothy R. Leonard, Walter Herzog   +5 more
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng, Kevin A. Strauss, Jian‐Ping Jin   +2 more
wiley   +1 more source

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]

, 2018
OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M, Bortolotti, CA, Forrest, A, Goullée, H, Haliloglu, G, Kaya, U, Laing, NG, Lambrughi, M, Manzur, A, Muntoni, F, Ong, R, Osborn, DP, Phadke, R, Pignataro, M, Ravenscroft, G, Sewry, CA, Talim, B, UK10K Consortium, Whyte, T, Zaharieva, I   +19 more
core   +1 more source

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach

Respiratory Medicine Case Reports
Background: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in ...
Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio   +2 more
doaj   +1 more source

Study of actin mutations linked to muscle disease

, 2008
Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
core  

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

Biology Open, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling   +4 more
doaj   +1 more source