Results 81 to 90 of about 561,973 (252)
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
BMC Neurology, 2022 Background Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers.
Carola Hedberg-Oldfors +4 more
doaj +1 more source
Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]
Neurology India, 2008 Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V. +1 more
openaire +2 more sources
Dystonia Scales for Children: Challenges and Obstacles in DBS Practice
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel +4 more
wiley +1 more source
Scientific Reports, 2022 GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka +16 more
doaj +1 more source
Genes and Diseases, 2021 Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused
Daniela Tavian +5 more
doaj +1 more source
Muscle &Nerve, EarlyView.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report [PDF]
Българска кардиологияThe follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type ...
Z. Shomanova +3 more
doaj +3 more sources
No General Association Between Myositis Antibodies and Electromyography Findings
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Objective Myositis‐specific antibodies (MSAs), myositis‐associated antibodies (MAAs), and concentric needle electromyography (EMG) are routinely used in the differential diagnosis of myositis. Their mutual relationship, particularly between MSAs/MAAs and EMG findings, remains unclear.
Benedict Kleiser +7 more
wiley +1 more source
Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. [PDF]
, 2019 IntroductionDysferlin loss-of-function mutations cause muscular dystrophy, accompanied by impaired membrane repair and muscle weakness. Growth promoting strategies including insulin-like growth factor 1 (IGF-1) could provide benefit but may cause ...
Barton, Elisabeth R +9 more
core +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
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