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522 Possible Causes for Impaired Exercise Tolerance, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] 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] Mitochondria appeared to be of normal density with no demonstrable abnormal cristae pattern or intramitochondrial inclusions.[circ.ahajournals.org]

  • 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
  • Anemia

    […] include fatigue, pallor, tachycardia, poor exercise tolerance, and suboptimal work performance. 14 Depleted blood reserves during delivery may increase the need for blood[bloodjournal.org] Low cobalamin is associated with an increased fetal risk of low lean mass and excess adiposity, increased insulin resistance, and impaired neurodevelopment. 13 Maternal risks[bloodjournal.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Obesity

    […] counselling; educational package Broom w3 531 with hypertension, impaired glucose tolerance, or dyslipidaemia, 1 year follow-up (UK) 46 37.1 101 Orlistat 120 mg three times[ncbi.nlm.nih.gov] A, the nutrition professional will focus on a dietary regimen tailored to the patient with impaired glucose tolerance or emerging type 2 diabetes.[doi.org] […] counselling XENDOS w16 3305 patients (21% with impaired glucose tolerance), 4 year follow-up (Sweden) 43 37.3 111 Orlistat 120 mg three times daily (n 1650); placebo (n 1655[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Hypoglycemia

    An 84-year-old Japanese woman with metastatic insulinoma suffered from frequent hypoglycemic events. Continuous glucose monitoring (CGM) confirmed severe and frequent symptomatic/asymptomatic hypoglycemia. After the initiation of everolimus treatment, the hypoglycemic events were rapidly eliminated. CGM revealed[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Chronic Obstructive Pulmonary Disease

    It has not helped us understand why some patients with severe FEV1 impairment have better exercise tolerance compared with others with similar FEV1 values.[ncbi.nlm.nih.gov] Pharmacological therapy is aimed at relieving symptoms; improving exercise tolerance and quality of life; slowing decline and even improving lung function; or preventing or[doi.org] Pharmacological therapy is aimed at relieving symptoms, improving exercise tolerance and quality of life, slowing decline and even improving lung function, or preventing and[doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Progressive External Ophthalmoplegia - Myopathy - Emaciation Syndrome

    An electron microscopic study showed a prominent accumulation of ab- normal mitochondria in the subsarcolemmal regions.[docslide.com.br] 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]

  • Congestive Heart Failure

    The impairment of exercise tolerance indicated by NYHA classification was markedly improved by PD for both groups.[ncbi.nlm.nih.gov] Numerous mechanisms unrelated to hemodynamic dysfunction may underlie impaired exercise tolerance in patients with chronic heart failure.[doi.org] […] as tolerated and, for Pts with impaired renal function or psychogenic polydipsia, fluid restriction. 2. drug therapy with multiple agents–diuretics, ACE inhibitors, digoxin[medical-dictionary.thefreedictionary.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Heart Failure

    Numerous mechanisms unrelated to hemodynamic dysfunction may underlie impaired exercise tolerance in patients with chronic heart failure.[doi.org] […] of life, including dyspnoea, fatigue, poor exercise tolerance and fluid retention.[radcliffecardiology.com] Coupled with the pathological changes of heart failure and associated symptoms is a reduction in exercise tolerance due to impaired skeletal muscle function.[dx.doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Iron Deficiency Anemia

    Idiopathic pulmonary hemosiderosis is a chronic, rare disorder confined to the lung, which is commonly characterized by the triad of recurrent hemoptysis, diffuse parenchyma infiltrates on chest radiography, and iron-deficiency anemia. Diagnosis may be difficult and the clinical course may be widely variable. Here, we[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria