Results 71 to 80 of about 607 (153)
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy
BMC Neurology, 2018 Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta +3 more
doaj +1 more source
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy) [PDF]
, 2016 Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle.
Armando, Aaron M +9 more
core +1 more source
Gene therapy for genetic diseases: challenges and future directions
MedComm, Volume 6, Issue 2, February 2025.The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie +4 more
wiley +1 more source
Animal Science Journal, Volume 96, Issue 1, January/December 2025.ABSTRACT Skeletal muscle regeneration is a complex process that requires coordinated interactions between myogenic and vascular cells. Chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface proteoglycan, had been shown to be expressed around immature myofibers in patients with Duchenne muscular dystrophy, suggesting its role in muscle regeneration.
Riku Yamaguchi +10 more
wiley +1 more source
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21 [PDF]
Muscle & Nerve, 2017 ABSTRACTIntroduction: A calpain‐3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb‐girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. Methods: Probands heterozygous for CAPN3 c.643_663del21
Jennifer M, Martinez-Thompson +6 more
openaire +2 more sources
A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy
Rinsho Shinkeigaku, 2008 We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Shirafuji, Toshihiko +6 more
openaire +2 more sources
NMR in Biomedicine, Volume 37, Issue 10, October 2024.In a prospective longitudinal study of 13 LGMDR1 patients and age‐matched controls, clinical assessments, including clinical testing of muscle strength, patient questionnaires, and gait analysis, revealed significant deteriorations in ACTIVLIM, QMFM, and 10‐MWT over one year.
Johannes Forsting +11 more
wiley +1 more source
CNS Neuroscience &Therapeutics, Volume 30, Issue 10, October 2024.The current study is the first to utilize tandem mass tag (TMT)‐labeled liquid chromatography‐mass spectrometry (LC–MS/MS)‐based proteomics in dysferlinopathy research. The study aimed to explore the proteomic landscape and disease‐related alterations in the muscle tissue proteome of 15 patients with dysferlinopathy with varying degrees of dystrophic ...
Di Wang +13 more
wiley +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 15, Issue 3, Page 1108-1120, June 2024.Abstract Background Finding sensitive clinical outcome measures has become crucial in natural history studies and therapeutic trials of neuromuscular disorders. Here, we focus on 1‐year longitudinal data from quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P MRS) in a placebo‐controlled study of sirolimus
Harmen Reyngoudt +11 more
wiley +1 more source
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach
, 2011 Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle ...
Anderson, Louise V.B +5 more
core