Results 21 to 30 of about 927 (180)
Recent advances in nemaline myopathy [PDF]
, 2021 The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods.
Laitila, Jenni +1 more
core +1 more source
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]
Eur J NeurolABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Bisciglia M +10 more
europepmc +2 more sources
Proteomic profiling of sporadic late‐onset nemaline myopathy
Annals of Clinical and Translational Neurology, 2022 Objective To define the proteomic profile of sporadic late‐onset nemaline myopathy (SLONM) and explore its pathogenesis. Methods We performed mass spectrometry on laser‐dissected frozen muscle samples from five patients with SLONM, three of whom with an ...
Elie Naddaf +6 more
doaj +1 more source
Хирургия позвоночника, 2022 Objective. To present a clinical case of a patient with spinal deformity associated with myopathy, which was initially undiagnosed and as- sessed as secondary myopathy after performed spinal surgeries. Material and Methods.
Oksana G. Prudnikova +3 more
doaj +1 more source
Acta Neuropathologica Communications, 2022 Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course and ...
Clémence Labasse +29 more
doaj +1 more source
Antioxidants, 2023 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez +12 more
doaj +1 more source
BMC Research Notes, 2009 Background Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four
Vandamme Drieke +8 more
doaj +1 more source
BMC Musculoskeletal Disorders, 2023 Background Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers.
Eiji Matsuura +8 more
doaj +1 more source
Pediatric Neurology Briefs, 1988 A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
J Gordon Millichap
doaj +1 more source
The spectrum of congenital myopathies in Romania – a pathological retrospective study [PDF]
Romanian Journal of Neurology, 2015 Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and ...
Alexandra Eugenia Bastian +2 more
doaj +1 more source