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173 Possible Causes for Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com] Cystinosis is an autosomal recessive lysosomal transport disorder caused by mutations in the CTNS gene. Both SERPINF1 and CTNS are located on chromosome 17p13.3.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Danon Disease

    A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet. 18, 319–324 (1998). 21 Verheijen, F. W. et al.[doi.org] There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] A new gene, encoding an anion transporter, is mutated in sialic acid storage disease. Nature Genet. 23, 462–465 (1999). 22 Gahl, W. A., Schneider, J. A. & Aula, P.[doi.org]

  • Autosomal Dominant Myoglobinuria

    In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] […] in the HNF4A gene ( OMIM ) on chromosome 20q13.[mendelian.co] Reduced COX staining can be seen in both ragged red and otherwise normal-appearing muscle fibers.[neupsykey.com]

  • Nephropathic Cystinosis

    OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.[ncbi.nlm.nih.gov] (CTNS) gene.[ncbi.nlm.nih.gov] Onofrio, 4, 00165, Rome, Italy. taranta@opbg.net Abstract Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Retinitis Pigmentosa

    […] encoding an integral membrane protein is mutated in nephropathic cystinosis.[doi.org] Article PubMed Google Scholar Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C: A novel gene[doi.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] […] congenital partial atresia of Crouzon syndrome Acrocephalopolydactylous dysplasia Perlman syndrome Chromosome 15q deletion Cardiomyopathy and deafness due to tRNA lysine gene[checkrare.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] , 17 late infantile neuronal ceroid lipofuscinosis, 18 and disorders involving the p53 gene. 19 In a previous open pilot study, we found that topical application of gentamicin[doi.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Familial Pterygium of the Conjunctiva

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] […] congenital partial atresia of Crouzon syndrome Acrocephalopolydactylous dysplasia Perlman syndrome Chromosome 15q deletion Cardiomyopathy and deafness due to tRNA lysine gene[checkrare.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Autosomal Recessive Deafness 103

    A single mutation, [AGL, 4,455delT], hasund in all North African Jewish patientsd (35,36).cystinosis, the clinical picture is dominatedymptomatology related to the renal Fanconie[docslide.us] The gene was recently cloned and molec-dies among Jews have not yet been reportedgenetic disorders are found with a rela-gh frequency in specific Jewish communitiesrth Africa.ency[docslide.us]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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