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Lipid Storage Disorder
Clinical History:Demographics: 50-year-old womanChief complaint: Progressive generalized weakness for 6 weeks starting distally in hands and feet and progressed to…
Myofibrillar Myopathy / Distal Myopathy: Two Cases
Clinical History:Both of these patients were identified to have mutations in the FNLC gene, albeit in regions that affect different…
Hemosiderin Pigment
Clinical History:This 80-year-old patient presented with complaints of left lower leg muscle pain clinically suspicious for myositis. Their past medical…
Fasciitis With or Without Eosinophilia
Clinical History:This 40-year-old patient presented with progressive skin thickening of several months duration involving their arms and legs. Laboratory studies…
Perineuritis
Clinical History:This 60-year-old patient presented with clinical and electrophysiologic features of mononeuritis multiplex. Their past medical history was significant for…
Graft-Versus-Host Disease Myopathy
Clinical History:The patient is a 62-year-old woman with myalgia and symmetric proximal weakness.PMH: Myelodysplastic syndrome (MDS) Complicated by acute myelogenous…
Iron Deposition – Vasculitic Neuropathy
Clinical History: CC: The patient is a 76-year-old woman progressive lower extremity then upper extremity anesthesia and dysesthesia, right then…
Myopathic Changes: Internalized Nuclei
Clinical History:This 60-year-old patient presented with bilateral proximal lower extremity muscle weakness of four years duration with some foot numbness.…
Regenerated Cluster
Clinical History:This 25-year-old patient presented with a one-year history of progressive bilateral upper and lower extremity muscle weakness and painful…
Axonopathy
Clinical History: The patient is a 72-year-old man. Clinical diagnosis of neuropathy. What cannot be seen on this electron micrograph…
Skeletal Muscle: Athletic Conditioning
Clinical History:This 17-year-old elite endurance athlete underwent muscle biopsy to evaluate for recent inability to perform at the level they…
Titin-Related Congenital Myopathy
Clinical History:The patient is a teenage male with past medical history end-stage renal dialysis and heart failure who presented with…
Toxoplasmosis: Encysted Spy of the CNS
Clinical History:A male patient in his 20s presents with recurrent fevers for 2 months progressing to 10 days of rapid…
Ring Fibers
Which genetic test is required to establish the diagnosis in this 59-year-old with distal muscle weakness, mild myotonia, and persistently…
Vacuolar myopathy in 92-year-old male
Clinical History:The patient is a 92-year-old-male and presented progressive muscle weakness that began in the left upper extremity and spread…