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815 Possible Causes for Muscle Biopsy Abnormal, Mutation in the Tripartite Motif Containing Protein 32 Gene

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in[pediatrics.aappublications.org] LGMD2H - The Tripartite-motif-containing gene 32 ( TRIM32 ) gene spans 14kb of genomic sequence at chromosome 9q33.1 and the transcript is composed of 2 exons, with the first[ncbi.nlm.nih.gov] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu] Muscle biopsies from subjects 1 and 3 were severely dystrophic with abnormal immunofluorescence and western blotting indicative of α-dystroglycan hypoglycosylation.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Duchenne Muscular Dystrophy

    Diagnosis of Duchenne Muscular Dystrophy A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle[disabled-world.com] […] fibers) For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze[webmd.com] A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle.[genome.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Rhabdomyosarcoma

    Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood, and 75% of such cases in the United States are reviewed at the Pathology Center for the Intergroup Rhabdomyosarcoma Study Group (IRSG). The first four generations of IRSG therapeutic trials (IRS I-IV) and supportive pathologic studies[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Motor Neuron Disease

    The results of electromyography and muscle biopsy were compatible with ALS. However, supranuclear vertical gaze palsy and slow saccades are seen.[ncbi.nlm.nih.gov] The patient had noted clumsiness and weakness in all extremities 5 years before presentation of abnormal eye movements.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Primary Lateral Sclerosis

    Muscle histology Deltoid muscle biopsies showed no mitochondrial abnormalities or dysfunction (Table 4 ). Muscle biopsies were normal in seven patients.[brain.oxfordjournals.org] Normal Normal Abnormal 18 Abnormal Normal Normal Abnormal 19 Abnormal Normal/increased Normal Normal 20 Abnormal Increased/normal Normal Normal Table 4 Electrophysiological[brain.oxfordjournals.org] […] and histological motor results Patient Electrophysiology Muscle biopsy MEPs Denervation No.* Reinnervation Denervation Reinnervation Upper limb Lower limb *Number of electrophysiological[brain.oxfordjournals.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Amyotrophic Lateral Sclerosis

    Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses. A muscle biopsy.[webmd.com]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Stiff-Person Syndrome

    Previous diagnostic testing, including magnetic resonance imaging, muscle biopsy, and electromyography, showed no specific abnormalities and blood was negative for anti-GAD[redorbit.com] Trials of several muscle relaxant medications and intravenous immunoglobulin did not provide any significant relief.[redorbit.com]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Becker Muscular Dystrophy

    Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin.[ncbi.nlm.nih.gov] Elevated serum CK Skeletal muscle biopsy showing decreased dystrophin quantity Panel overlap The gene on this panel is also included on our Autism Intellectual Disability[unmc.edu] Dystrophin immunohistochemical analysis showed a discontinuous patchy staining pattern in cardiac and skeletal muscles biopsied from the proband.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Eosinophilic Fasciitis

    MRI of femur demonstrated oedema and abnormal enhancement along all of the fascial planes surrounding the pelvic and thigh muscles.[imj.ie] Currently, eosinophilic fasciitis can be diagnosed definitively only by full-thickness epidermis-to-muscle biopsy.[ajronline.org] Skin, fascial and muscle biopsy demonstrated dense chronic inflammatory cell infiltrate affecting the perimysial connective tissues with abundant eosinophils.[imj.ie]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene

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