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637 Possible Causes for Floppy Muscle, Mutation in the Tripartite Motif Containing Protein 32 Gene

  • Limb-Girdle Muscular Dystrophy

    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] […] no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness by age 50 Contractures * Includes alpha, beta, gamma and[encyclopedia.com] Moreover, a human muscle LIM protein (MLP) mutation (W4R) associated with dilated cardiomyopathy (DCM) results in a marked defect in Telethonin interaction/ localization ([ncbi.nlm.nih.gov]

  • Muscular Dystrophy

    Symptoms include: Myotonia (prolonged muscle spasm) in the fingers and facial muscles A floppy-footed, high-stepping gait (walk or run) Cataracts Heart abnormalities Endocrine[ohsu.edu] Myotonic MD Myotonic MD varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles.[christopherreeve.org] In young babies, the muscle weakness may be noticed as 'floppiness' of the baby.[patient.info]

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

    An elderly black man was admitted to our institution with macrocytic anemia, dysphagia, and significant weight loss. Results of an esophagogram were suggestive of achalasia. Gastric adenocarcinoma infiltrating the gastric cardia was seen on gastroscopy. The mode of presentation of gastric cancer in this case has[…][ncbi.nlm.nih.gov]

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

    U. S. Food and Drug Administration FDA/FTC/NAAG Brochure*: 1992 Presented as a Public Service by: Federal Trade Commission Food and Drug Administration National Association of Attorneys General The Weight-Loss Industry Looking for a quick and easy way to lose weight? You're not alone. An estimated 50 million[…][web.archive.org]

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

    BACKGROUND Anorexia nervosa is a relatively frequently encountered eating disorder. Beyond its psychiatric significance, it is associated with multiple hematological features such as cytopenia. It can be related to gelatinous transformation of the bone marrow. CASE REPORT We describe the case of a 20-year-old male[…][ncbi.nlm.nih.gov]

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

    We report that sarcotubular myopathy (STM) is caused by mutation in TRIM32, the gene encoding the tripartite motif-containing protein 32.[ncbi.nlm.nih.gov] In most instances, the affected infant shows less than the usual power of muscle contraction, hypotonia (floppiness and lack of resistance to passive movement of the limbs[healthcentral.com] We report that sarcotubular my-opathy (STM) is caused by mutation in TRIM32, thegene encoding the tripartite motif-containing protein 32.TRIM32 was found to be the gene mutated[docslide.com.br]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    For people with SCADD who do have symptoms, these symptoms include problems eating, low muscle tone (they may be floppy), delays in development, vomiting, low energy (lethargy[thinkgenetic.com] ) and seizures in infants and muscle cramps or pain and difficulty with exercise or episodes of nausea, vomiting and shortness of breath in older children and adults.[thinkgenetic.com]

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

    Symptoms of MMA may include vomiting, “floppymuscles, and excessive fatigue. Children with MMA do not gain weight and grow as they would be expected to.[chp.edu] Some of the first symptoms of a metabolic crisis are: poor appetite vomiting extreme sleepiness or lack of energy low muscle tone (floppy muscles and joints) Common blood[newbornscreening.info] These symptoms are generally accompanied by lethargy, lack of muscle tone (hypotonia), and "floppiness" in newborns.[encyclopedia.com]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Emery-Dreifuss Muscular Dystrophy Type 2

    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[docksci.com] […] a) Floppy Baby syndrome b) Early onset in life c) Rapid progression d) Generalized muscle weakness e) Hypotonia 1.1) Which of the following X-linked recessive muscle disorders[quizlet.com] Moreover, a human muscle LIM protein (MLP) mutation (W4R) associated with dilated cardiomyopathy (DCM) results in a marked defect in Telethonin interaction/localization (38[docksci.com]

  • Bardet-Biedl Syndrome Type 11

    Talk to our genetiec expert 55 644 5590 All the samples are tested by 2 different teams to get accurate test results. The samples are processed at Genetic DNA Lab facility. Test Cost : 3000.00 AED Reporting Time: 5 Week Sample Type: EDTA blood or DNA Bardet-Biedl syndrome type 11 (TRIM32) Test Description :[…][dnalabsuae.com]

    Missing: Floppy Muscle

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