Create issue ticket

4,424 Possible Causes for Mutation in the Tripartite Motif Containing Protein 32 Gene, Myopathy

  • 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] Recessive mutations in C-terminal domains of TRIM32 result in limb-girdle muscular dystrophy 2H and sarcotubular myopathy, a rare congenital myopathy commonly seen in Hutterites[ncbi.nlm.nih.gov] 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]

  • 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] For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.[ncbi.nlm.nih.gov] In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family[ncbi.nlm.nih.gov]

  • 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] An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.[annalsofian.org] Chapter First Online: 27 June 2014 Abstract Emery-Dreifuss muscular dystrophy (EDMD) is a progressive myopathy characterized by a clinical triad including slowly progressive[link.springer.com]

  • Muscle Strain

    […] accessory muscle Muscle atrophy, i.e. too much fat Muscle edema, i.e. too much water while retaining normal architecture due to muscle injury, myositis and imflammatory myopathy[radiologyassistant.nl]

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

    Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM.[neuropathology-web.org] In this study we describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features of the patient.[ncbi.nlm.nih.gov] Myopathy, central core Myopathy, congenital Myopathy, myotubular Myotubular myopathy Walker Walbug muscular dystrophy, congenital Walker walburg congenital muscular dystrophy[icd9data.com]

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

    METHODS: We studied 60 patients who had undergone 18 F-FDG PET/CT scans for workup of suspected PMR, arthritis, enthesitis, or myopathy.[ncbi.nlm.nih.gov] Gupta A, Thompson PD (2011) The relationship of vitamin D deficiency to statin myopathy. Atherosclerosis 215: 23–29. View Article Google Scholar 26.[journals.plos.org] Phillips P, Haas R, Bannykh S, Hathaway S, Gray N, et al. (2002) Statin-associated myopathy with normal creatine kinase levels. Ann Intern Med 137: 581–585.[journals.plos.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Bardet-Biedl Syndrome Type 11

    ECTDS: Ectodermal dysplasia/short stature syndrome; HID: Hystrix-like ichthyosis with deafness; KID: Keratitis-ichthyosis-deafness syndrome; PNMHH: Peripheral neuropathy, myopathy[centogene.com] 1 BTH005 BTHLM1 Bethlem Myopathy 2 BTH006 BTHLM2 Beukes Hip Dysplasia BKS003 BFHD Bicipital Tenosynovitis BCP001 Bietti Crystalline Corneoretinal Dystrophy BTT001 BCD Bifid[malacards.org] 278250] ATP6V0A4 ATPase, H transporting, lysosomal V0 subunit a4 Renal tubular acidosis, distal, autosomal recessive [MIM 602722] BIN1 bridging integrator 1, synaptophysin Myopathy[tigem.it]

  • Duchenne Muscular Dystrophy

    It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.[ncbi.nlm.nih.gov] MRI, EMG and NCV were compatible with proximal muscle myopathy.[ncbi.nlm.nih.gov] Because of the infiltration of degenerating muscles with… Read More myopathy In myopathy …most common muscular dystrophy is Duchenne’s, an X-chromosome-linked disorder involving[britannica.com]

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

    […] for patients with mitochondrial myopathies. 5 Conclusion Mitochondrial myopathies should be considered in patients presenting with recurrent muscle pain and elevation of[jaoa.org] Zocor Myopathy A number of patients have reported the onset of Zocor myopathy.[drugdangers.com] How common is statin induced myopathy?[doi.org]

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

    Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy.[genecards.org] PMID 30810839 Centronuclear myopathy with cardiomyopathy due to recessive titinopathy. Martinez-Thompson JM, et al. Muscle Nerve, 2019 Apr.[ncbi.nlm.nih.gov] , myofibrillar, 9, with early respiratory failure (MFM9) [MIM:603689]: An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial[genecards.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene

Further symptoms

Similar symptoms