Barth Syndrome

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Michael Schlame - One of the best experts on this subject based on the ideXlab platform.

  • aav gene therapy prevents and reverses heart failure in a murine knockout model of Barth Syndrome
    Circulation Research, 2020
    Co-Authors: Suya Wang, Douglas Strathdee, William T Pu, Vassilios J Bezzerides, Michael Schlame, Yifei Li, Yang Xu
    Abstract:

    Rationale: Barth Syndrome is an X-linked cardiac and skeletal myopathy caused by mutation of the gene Tafazzin (TAZ). Currently, there is no targeted treatment for Barth Syndrome. Lack of a proper ...

  • A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population
    The Journal of Pediatrics, 2020
    Co-Authors: Paighton Ciara Miller, Matthew J. Toth, Michael Schlame, Mindong Ren, Colin K.l. Phoon
    Abstract:

    Objective To determine the prevalence of Barth Syndrome in the pediatric population. Study design Data were collected from the Barth Syndrome Foundation Registry and relevant literature. With the advent of genetic testing and whole-exome sequencing, a multipronged Bayesian analysis was used to estimate the prevalence of Barth Syndrome based on published data on the incidence and prevalence of cardiomyopathy and neutropenia, and the respective subpopulations of patients with Barth Syndrome indicated in these publications. Results Based on 7 published studies of cardiomyopathy and 2 published studies of neutropenia, the estimated prevalence of Barth Syndrome is approximately 1 case per million male population. This contrasts with 99 cases in the Barth Syndrome Foundation Registry, 58 of which indicate a US location, and only 230-250 cases known worldwide. Conclusions It appears that Barth Syndrome is greatly underdiagnosed. There is a need for better education and awareness of this rare disease to move toward early diagnosis and treatment.

  • Loss of protein association causes cardiolipin degradation in Barth Syndrome.
    Nature Chemical Biology, 2016
    Co-Authors: Colin K.l. Phoon, Bob Berno, Richard M Epand, Mindong Ren, Kenneth D'souza, Esthelle Hoedt, Guoan Zhang, Thomas A. Neubert, Michael Schlame
    Abstract:

    Monolyso-cardiolipin (MLCL) accumulates in individuals with Barth Syndrome, but this can be mitigated by stabilization of cardiolipin from metabolism to MLCL via assembly into supercomplexes of oxidative phosphorylation proteins. This process was found to be defective in subjects with Barth Syndrome.

  • content of plasmalogen lipids markedly decreases in Barth Syndrome
    Biophysical Journal, 2016
    Co-Authors: Tomohiro Kimura, Bob Berno, Atsuko Kimura, Michael Schlame, Richard M Epand
    Abstract:

    Barth Syndrome, with a major symptom of dilated cardiomyopathy, is caused by mutations in the enzyme tafazzin that catalyzes acylchain exchange between phospholipids and lysophospholipids. In a tafazzin-deficient heart, the acyl chain composition of cardiolipin, an essential component of cardiac lipids, becomes heterogeneous unlike in a normal heart with a single dominant species. In addition, cardiolipin decreases and monolysocardiolipin appears. In this work we have compared the lipid composition of hearts obtained from normal mice with that of hearts obtained from tafazzin knock-down mice. An extensive series of 31P NMR experiments using a cryoprobe on the biological materials with different solution conditions enabled us to determine detailed compositions of phospholipids in heart tissue. In addition to confirming that hearts obtained from tafazzin knock-down mice had less cardiolipin and detectable amounts of monolysocardiolipin, we found a decrease in plasmenylcholine. While the decrease in both cardiolipin and plasmenylcholine were large, both ∼35%, the decrease in plasmenylcholine in terms of changes in the total lipid content was drastic, ∼ 11% (32.4→21.5%); while the decrease in cardiolipin was only 2.3% (6.3→4.0%). In order to obtain an accurate and stable value for the amount of plasmalogen from highly resolved NMR resonances, it was required to have both a chelating agent EDTA and an antioxidant BHT present. Different tissues of the same mammalian species vary with regard to the relative amounts of the two principle forms of plasmalogen: plasmenylcholine and plasmenylethanolamine. Heart contains mostly plasmenylcholine, while lymphoblasts have principally plasmenylethanolamine. As a system directly related to the disease, we also studied human lymphoblasts derived from individuals with Barth Syndrome vs. normal controls. In this case we observed a marked decrease in the plasmenylethanolamine in mitochondria from individuals with Barth Syndrome.

  • Role of calcium-independent phospholipase A2 in the pathogenesis of Barth Syndrome
    Proceedings of the National Academy of Sciences of the United States of America, 2009
    Co-Authors: Ashim Malhotra, Irit Edelman-novemsky, Jinping Ma, Heide Plesken, Yang Xu, Michael Schlame
    Abstract:

    Quantitative and qualitative alterations of mitochondrial cardiolipin have been implicated in the pathogenesis of Barth Syndrome, an X-linked cardioskeletal myopathy caused by a deficiency in tafazzin, an enzyme in the cardiolipin remodeling pathway. We have generated and previously reported a tafazzin-deficient Drosophila model of Barth Syndrome that is characterized by low cardiolipin concentration, abnormal cardiolipin fatty acyl composition, abnormal mitochondria, and poor motor function. Here, we first show that tafazzin deficiency in Drosophila disrupts the final stage of spermatogenesis, spermatid individualization, and causes male sterility. This phenotype can be genetically suppressed by inactivation of the gene encoding a calcium-independent phospholipase A2, iPLA2-VIA, which also prevents cardiolipin depletion/monolysocardiolipin accumulation, although in wild-type flies inactivation of the iPLA2-VIA does not affect the molecular composition of cardiolipin. Furthermore, we show that treatment of Barth Syndrome patients' lymphoblasts in tissue culture with the iPLA2 inhibitor, bromoenol lactone, partially restores their cardiolipin homeostasis. Taken together, these findings establish a causal role of cardiolipin deficiency in the pathogenesis of Barth Syndrome and identify iPLA2-VIA as an important enzyme in cardiolipin deacylation, and as a potential target for therapeutic intervention.

Barry J. Byrne - One of the best experts on this subject based on the ideXlab platform.

Grant M. Hatch - One of the best experts on this subject based on the ideXlab platform.

  • Barth Syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets
    Molecular and Cellular Biochemistry, 2021
    Co-Authors: Hana M. Zegallai, Grant M. Hatch
    Abstract:

    Barth Syndrome is a rare X-linked genetic disease classically characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3-methylglutaconic aciduria. It is caused by mutations in the tafazzin gene localized to chromosome Xq28.12. Mutations in tafazzin may result in alterations in the level and molecular composition of the mitochondrial phospholipid cardiolipin and result in large elevations in the lysophospholipid monolysocardiolipin. The increased monolysocardiolipin:cardiolipin ratio in blood is diagnostic for the disease, and it leads to disruption in mitochondrial bioenergetics. In this review, we discuss cardiolipin structure, synthesis, and function and provide an overview of the clinical and cellular pathophysiology of Barth Syndrome. We highlight known pharmacological management for treatment of the major pathological features associated with the disease. In addition, we discuss non-pharmacological management. Finally, we highlight the most recent promising therapeutic options for this rare mitochondrial disease including lipid replacement therapy, peroxisome proliferator-activated receptor agonists, tafazzin gene replacement therapy, induced pluripotent stem cells, mitochondria-targeted antioxidants and peptides, and the polyphenolic compound resveratrol.

  • Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts
    Lipids, 2017
    Co-Authors: Edgard M. Mejia, James C. Zinko, Kristin D. Hauff, Fred Y. Xu, Amir Ravandi, Grant M. Hatch
    Abstract:

    Barth Syndrome (BTHS) is an X-linked genetic disease resulting in loss of cardiolipin (Ptd_2Gro). Patients may be predisposed to hypoglycemia and exhibit increases in whole-body glucose disposal rates and a higher fat mass percentage. We examined the reasons for this in BTHS lymphoblasts. BTHS lymphoblasts exhibited a 60% increase ( p  

  • Role of MLCL AT-1 in Cardiolipin Metabolism: A potential Therapeutic approach to Barth Syndrome
    The FASEB Journal, 2011
    Co-Authors: Ryan W. Mitchell, Elikana Gale, Bill A Taylor, Grant M. Hatch
    Abstract:

    Barth Syndrome (BTHS) is a rare X-linked genetic disorder caused by a mutation in the Tafazzin gene (taz), an enzyme involved in the remodelling pathway of cardiolipin (CL). Mutation in taz results...

  • Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth Syndrome.
    Biochemistry and Cell Biology, 2010
    Co-Authors: Kristin Hauff, Grant M. Hatch
    Abstract:

    Barth Syndrome is a rare X-linked disease in which mild hypocholesterolemia is observed in some patients. We investigated cholesterol biosynthesis in lymphoblasts from a normal and age-matched Barth Syndrome patient. Control and Barth Syndrome (ΔTAZ1) lymphoblasts were incubated in the presence or absence of serum to induce cholesterol synthesis and hydroxymethylglutaryl-coenzyme A reductase activity and expression, and cholesterol biosynthesis from radioactive precursors was determined. Cholesterol biosynthesis from [2-14C]pyruvate was stimulated 2-fold in control cells, but was unchanged in ΔTAZ1 lymphoblasts, and from [1-14C]acetate was stimulated 77% in control but only 26% in ΔTAZ1 lymphoblasts upon serum removal, indicating a lower ability of ΔTAZ1 cells to upregulate cholesterol biosynthesis. The reason was an inability to increase hydroxymethylglutaryl-coenzyme A reductase activity, which was already near maximum in ΔTAZ1 lymphoblasts, in response to serum removal, compared with control cells. The...

  • Cardiolipin metabolism and Barth Syndrome
    Progress in Lipid Research, 2006
    Co-Authors: Kristin Hauff, Grant M. Hatch
    Abstract:

    Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the mitochondria, particularly in the respiratory chain and is involved in the mitochondrial-mediated apoptotic process. The appropriate content of cardiolipin appears to be critical for these functions. Cardiolipin is synthesized de novo in mitochondria and is rapidly remodeled to produce CL enriched in linoleic acid. The Barth Syndrome gene TAZ has been identified and expression of the gene yields proteins known as tafazzins. Mutations in TAZ result in a decrease in tetra-linoleoyl species of cardiolipin and an accumulation of monolysocardiolipin within cells from Barth Syndrome patients. Although the protein product of the TAZ gene shows sequence homology to the glycerolipid acyltransferase family of enzymes, its precise biochemical function remains to be elucidated. In this review we highlight some of the recent literature on cardiolipin metabolism and Barth Syndrome.

Iris L. Gonzalez - One of the best experts on this subject based on the ideXlab platform.

  • tafazzin splice variants and mutations in Barth Syndrome
    Molecular Genetics and Metabolism, 2014
    Co-Authors: Susan M Kirwin, Athena Manolakos, Sarah Swain Barnett, Iris L. Gonzalez
    Abstract:

    article i nfo Article history: Barth Syndrome is caused by mutations in the TAZ (tafazzin) gene on human chromosome Xq28. The human tafazzin gene produces four major mRNA splice variants; two of which have been shown to be functional (TAZ lacking exon 5 and full-length) in complementation studies with yeast and Drosophila. This study characterizes the multiple alternative splice variants of TAZ mRNA and their proportions in blood samples from a cohort of individuals with Barth Syndrome (BTHS). Because it has been reported that collection and processing methods can affect the expression of various genes, we tested and chose a stabilizing medium for collecting, shipping and processing of the blood samples of these individuals. In both healthy controls and in BTHS individuals, we found a greater variety of alternatively spliced forms than previously described, with a sizeable proportion of minor splice variants besides the four dominant isoforms. Individuals with certain exonic and intronic splice mutations produce additional mutant mRNAs that could be translated into two or more proteins with different amino acid substitutions in a single individual. A fraction of the minor splice variants is predicted to be non- productive.

  • A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
    JIMD reports, 2013
    Co-Authors: Jon Steller, Iris L. Gonzalez, Brandy A. Westerfield, Raymond Y Wang, Wim Kulik, Anjan S. Batra, Richard Chang, Natalie M. Gallant
    Abstract:

    Objective: Barth Syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal mitochondria, variably expressed skeletal myopathy, and growth delay. The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28. We report a novel exonic splicing mutation in the TAZ gene in a patient with atypical Barth Syndrome.

  • Multiple transmissions of Barth Syndrome through an oocyte donor with a de novo TAZ mutation.
    Fertility and Sterility, 2007
    Co-Authors: Susan M Kirwin, Vicky L. Funanage, Kathy M. B. Vinette, Sharon B. Schwartz, Iris L. Gonzalez
    Abstract:

    Objective To report recurrent transmissions of Barth Syndrome through a single oocyte donor carrying a de novo TAZ mutation. Design Case report. Setting Clinical molecular diagnostics laboratory. Patient(s) Oocyte donor and individuals conceived with her oocytes. Intervention(s) Molecular testing. Main Outcome Measure(s) Detection of TAZ mutation. Result(s) Multiple individuals affected with Barth Syndrome conceived from a single oocyte donor who is a carrier of a de novo TAZ mutation. Conclusion(s) We report multiple transmissions of Barth Syndrome through a single oocyte donor with a de novo TAZ mutation.

  • Cardiac and Clinical Phenotype in Barth Syndrome
    PEDIATRICS, 2006
    Co-Authors: Carolyn T. Spencer, Iris L. Gonzalez, Randall M. Bryant, Jane A Day, Steven D. Colan, W. Reid Thompson, Julie Berthy, Sharon P. Redfearn, Barry J. Byrne
    Abstract:

    OBJECTIVE. Barth Syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical phenotype in Barth Syndrome has not been characterized systematically, and the condition may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder. METHODS. We conducted an observational, cross-sectional study of the largest cohort of patients with Barth Syndrome to date (n = 34; age range: 1.2–22.6 years). Evaluation included echocardiography, electrocardiography (standard and signal-averaged), microvolt T wave alternans analysis, biochemical and hematologic laboratory analyses, and physical therapy evaluation of skeletal myopathy. RESULTS. Family history was positive for confirmed or suspected Barth Syndrome in 63%. Ninety percent of patients had a clinical history of cardiomyopathy (mean age at diagnosis of cardiomyopathy: 5.5 months; at genetic confirmation of Barth Syndrome: 4.6 years). Echocardiography revealed a mean ejection fraction of 50% ± 10%, mean fractional shortening of 28% ± 5%, and mean left ventricular end-diastolic volume z score of 1.9 ± 1.8. Left ventricular morphology demonstrated increased trabeculations or true noncompaction in 53%. Of 16 patients who were evaluated at ≥11 years of age, 7 (43%) had documented ventricular arrhythmia. Growth deficiency was present (mean weight percentile: 15%; mean height percentile: 8%). Laboratory analysis revealed low total white blood cell count (absolute count: CONCLUSIONS. Our cohort demonstrated clinical variability, but most had cardiomyopathy and diminished growth velocity, with a propensity toward neutropenia and low cholesterol. There was increased incidence of ventricular arrhythmia, predominantly in adolescents and young adults. Barth Syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.

  • Barth Syndrome: TAZ gene mutations, mRNAs, and evolution.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Iris L. Gonzalez
    Abstract:

    Barth Syndrome (MIM 302060) is an X-linked condition that includes dilated cardiomyopathy, neutropenia, failure to thrive, abnormal mitochondria, and 3-methylglutaconic aciduria. The mutated gene, TAZ, first described in 1996, appeared to produce a large set of alternatively spliced mRNAs with initiations of transcription upstream of exons 1 and 3. Since then, disease-causing mutations have been found in all exons including, most recently, a missense mutation in the controversial exon 5. Because of the initially described second initiation of transcription in intron 2, with in-frame initiation of translation in exon 3, we hypothesized that subjects with mutations in exons 1 and 2 would produce more normal “short product” that might attenuate their phenotype. Moreover, it was of interest to determine which splice variants were potentially functional as exon 5 is not present in yeast and rodents, and the variant lacking this exon is the most abundant. Using RT-PCR, we characterized TAZ mRNAs in cultured lymphocytes from nine subjects with Barth Syndrome and two healthy controls. The TAZ genes and mRNAs of primates were also included. We found the following: (1) there is only one site for initiation of transcription, and the normal alternatively spliced assortment is limited to full-length, Δ5, Δ7, Δ5Δ7; (2) there are two alternative splice sites within introns 1 and 2 that could potentially produce an in-frame product; (3) exon 5 evolved into “exonhood” in the primate lineage after the split between Old World monkeys and hominoid primates; and (4) our results suggest that only two functional protein variants exist in lymphocytes: Δ5 and full-length. Although exon 5 does not appear to be required for TAZ function in yeast and monkeys, its evolution to a highly conserved spliced exon in hominoid primates and the recent finding of an exon 5 mutation in a patient with Barth Syndrome suggest that the full-length variant is important to TAZ function. © 2005 Wiley-Liss, Inc.

Carolyn T. Spencer - One of the best experts on this subject based on the ideXlab platform.

  • Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth Syndrome
    Journal of Inherited Metabolic Disease, 2012
    Co-Authors: W. Todd Cade, Carolyn T. Spencer, Barry J. Byrne, Melissa K. Maisenbacher, Dominic N. Reeds, Alan D. Waggoner, Robert D. O'connor, Jan R. Crowley, Linda R. Peterson
    Abstract:

    Background Barth Syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal myopathy in patients with BTHS.

  • Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth Syndrome
    American Journal of Physiology-Heart and Circulatory Physiology, 2011
    Co-Authors: Carolyn T. Spencer, Barry J. Byrne, Randall M. Bryant, Sharon P. Redfearn, Melissa K. Maisenbacher, Paul B. Benni, Renee Margossian, Petar Breitenger, Edward Marcus, W. Todd Cade
    Abstract:

    Barth Syndrome (BTHS) is a mitochondrial myopathy characterized by reports of exercise intolerance. We sought to determine if 1) BTHS leads to abnormalities of skeletal muscle O2 extraction/utiliza...

  • Psychosocial Functioning in Youth with Barth Syndrome.
    Children's Health Care, 2009
    Co-Authors: Eric A. Storch, Mary L. Keeley, Lisa J. Merlo, Jay St. Amant, Marni L. Jacob, Jill F. Storch, Carolyn T. Spencer, Barry J. Byrne
    Abstract:

    This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality. Parents completed measures of parental distress, parenting stress, child academic functioning, child adaptive behavior, and child emotional and behavioral functioning. Quality of life ratings were consistently lower in youth with Barth Syndrome relative to both healthy controls and a previously reported sample of youth with cardiac disease. Compared to healthy controls, children with Barth Syndrome were rated as having more internalizing and externalizing symptoms, social problems, loneliness, and lower independent functioning. Parents of boys with Barth Syndrome reported greater distress and parenting stress relative to healthy controls. In addition, parents reported ...

  • Psychosocial Functioning in Youth with Barth Syndrome.
    Children's health care : journal of the Association for the Care of Children's Health, 2009
    Co-Authors: Eric A. Storch, Mary L. Keeley, Lisa J. Merlo, Jay St. Amant, Marni L. Jacob, Jill F. Storch, Carolyn T. Spencer, Barry J. Byrne
    Abstract:

    This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality. Parents completed measures of parental distress, parenting stress, child academic functioning, child adaptive behavior, and child emotional and behavioral functioning. Quality of life ratings were consistently lower in youth with Barth Syndrome relative to both healthy controls and a previously reported sample of youth with cardiac disease. Compared to healthy controls, children with Barth Syndrome were rated as having more internalizing and externalizing symptoms, social problems, loneliness, and lower independent functioning. Parents of boys with Barth Syndrome reported greater distress and parenting stress relative to healthy controls. In addition, parents reported a significant need for academic accommodations, given their son's illness and associated impairments. Boys with Barth Syndrome and their parents appear to be affected by the presence of the illness in numerous ways. Results suggest the need for interventions aimed at helping children and families cope with illness-related stressors to enhance quality of life and overall functioning.

  • Cardiac and Clinical Phenotype in Barth Syndrome
    PEDIATRICS, 2006
    Co-Authors: Carolyn T. Spencer, Iris L. Gonzalez, Randall M. Bryant, Jane A Day, Steven D. Colan, W. Reid Thompson, Julie Berthy, Sharon P. Redfearn, Barry J. Byrne
    Abstract:

    OBJECTIVE. Barth Syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical phenotype in Barth Syndrome has not been characterized systematically, and the condition may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder. METHODS. We conducted an observational, cross-sectional study of the largest cohort of patients with Barth Syndrome to date (n = 34; age range: 1.2–22.6 years). Evaluation included echocardiography, electrocardiography (standard and signal-averaged), microvolt T wave alternans analysis, biochemical and hematologic laboratory analyses, and physical therapy evaluation of skeletal myopathy. RESULTS. Family history was positive for confirmed or suspected Barth Syndrome in 63%. Ninety percent of patients had a clinical history of cardiomyopathy (mean age at diagnosis of cardiomyopathy: 5.5 months; at genetic confirmation of Barth Syndrome: 4.6 years). Echocardiography revealed a mean ejection fraction of 50% ± 10%, mean fractional shortening of 28% ± 5%, and mean left ventricular end-diastolic volume z score of 1.9 ± 1.8. Left ventricular morphology demonstrated increased trabeculations or true noncompaction in 53%. Of 16 patients who were evaluated at ≥11 years of age, 7 (43%) had documented ventricular arrhythmia. Growth deficiency was present (mean weight percentile: 15%; mean height percentile: 8%). Laboratory analysis revealed low total white blood cell count (absolute count: CONCLUSIONS. Our cohort demonstrated clinical variability, but most had cardiomyopathy and diminished growth velocity, with a propensity toward neutropenia and low cholesterol. There was increased incidence of ventricular arrhythmia, predominantly in adolescents and young adults. Barth Syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.

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