Optical coherence tomography demonstrated macular atrophy. Subunit 6 forms part of the F0 proton channel of the ATP synthase and the leucine to arginine amino acid substitution appears to block proton translocation and inhibit ATP synthesis. Symptoms can occur as early as 5 months of age. Reprint requests: Leire Juaristi, MD; e-mail: [emailprotected]. The mtDNA from the father is carried by sperm cells. Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs ( sensory Due to this, the diagnosis of cerebellar syndrome was reconsidered, and complementary tests were performed, suspecting late-onset Friedreich ataxia. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. Biochemical and biophysical research communications, 494(1), 133-137. The Johns Hopkins University. (2004). Antioxidants play a role in improving the oxidative phosphorylation that is otherwise impaired. There was no family history of other neurologic disease or deafness. NARP classically manifests in childhood and is estimated to have an incidence rate of approximately 1 to 9 per 100,000. Mutation load becomes an important factor in determining the clinical severity of the disease in potential progeny. Seattle (WA): University of Washington, Seattle; 1993-2021. The disorder is a maternally inherited mitochondrial disease. Other nDNA-based enzyme deficiencies (i.e., NADH-CoQ and cytochrome C oxidase) have also been implicated as a cause of some cases of autosomal recessive Leigh syndrome. To report a case of neuropathy, ataxia, and retinitis pigmentosa syndrome, a rare and undiagnosed disease in ophthalmology due to the need for multidisciplinary evaluation. Some researchers believe Wernicke and Korsakoff syndromes are separate yet related disorders; others believe them to be different stages of the same disorder or disease spectrum. 2000;45(2):69-75. Approved by: Krish Tangella MD, MBA, FCAP. Treatment recommendations are based primarily on open label studies, case reports, and personal observations. Hum Mol Genet 2014;23:61916200. RP is a general term for a group of vision disorders that cause progressive degeneration of the membrane lining the eyes (retina) resulting in visual impairment. Available at: http://omim.org/entry/312170 Accessed March 16, 2016. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA. An affected mother will pass the traits to all of her children, but only the daughters will pass the mutation(s) onto the next generation. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. 2006;37:88-94. Available at: 2. The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125. When this mutation is present in a higher percentage of a person's mitochondriamore than 90 percent to 95 percentit usually causes a more severe condition known as maternally inherited Leigh syndrome. J Neurol. Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. X-linked recessive disorders are conditions that are coded on the X chromosome. In Encyclopedia of Molecular Mechanisms of Disease (pp. 2012, In press. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. ephesians 4:15 message; blue raspberry crush soda; The classical symptoms are neuropathy, ataxia, and retinitis pigmentosa but other accompanying symptoms and signs may occur in NARP (see below)[5]. Leigh syndrome is an autosomal recessive disorder that presents during infancy and results in many of the same neurologic features as NARP in a progressively degenerative fashion. interesting facts about hudson taylor; snoo stopped baby needs care; rule of simple past tense; maimonides' mishneh torah pdf. Retinal pigment epithelium alteration with round pigment clumps in the midperiphery, papillary pallor, and arteriolar attenuation. The specific symptoms of NARP syndrome in each individual vary greatly from case to case. Leighs Disease Information Page. Mitochondrial Disorders Overview. Over time, cells in their nervous system break down or degenerate. Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland Mitochondrial DNA (mtDNA) is contained in the mitochondria of cells and is inherited exclusively from the childs mother. Wernickes syndrome, also known as Wernicke encephalopathy, is a neurological disease characterized by the clinical triad of confusion, the inability to coordinate voluntary movement (ataxia), and eye (ocular) abnormalities. 2019 Jul 1. 1467-1469). See our, Neuropathy, ataxia, and retinitis pigmentosa, URL of this page: https://medlineplus.gov/genetics/condition/neuropathy-ataxia-and-retinitis-pigmentosa/. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. [citation needed], The clinical diagnosis is backed up by investigative findings. 5. Citrulline level in blood is decreased. 1993;122:419-22. [7] It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP. Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Death Metal from Wrzburg, Germany. 2nd ed. Suspecting retinitis pigmentosa, complementary examinations were conducted in the ophthalmology department. The mutation leads to depletion of mitochondrial DNA and mitochondrial dysregulation. Electromyogram findings were compatible with sensory axonal polyneuropathy and the muscle biopsy to rule out mitochondrial disease was suggestive of this type of disease. National Institute of Neurological Disorders and Stroke (NINDS). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. Lactic acidosis and hypercapnia can lead to psychomotor regression and respiratory, heart, or kidney impairment. Full-field electroretinogram of the right eye: significant decrease in rod response amplitude, with slight delay in the latency as well as in the combined response. Some researchers believe that cases of adult-onset Leigh syndrome may be inherited as an autosomal dominant trait, due to a nDNA mutation. Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa. Makino M, Horai S, Goto Y, Nonaka I. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. 1900 Crown Colony Drive In some cases of Leigh syndrome, no genetic cause can be identified. Ann Neurol. Mitochondrial Disorders. Biomarkers in Inborn Errors of Metabolism, Elsevier, 19 May 2017, www.sciencedirect.com/science/article/pii/B9780128028964000080. S148-S148). Less common findings seen with NARP include hearing loss, ophthalmoplegia, cardiac conduction defects, anxiety, dementia, sleep apnea, and short stature. It is important to note that having a risk factor does not mean that one will get the condition. Symptoms associated with Tay-Sachs disease may include an exaggerated startle response to sudden noises, listlessness, loss of previously acquired skills (i.e., psychomotor regression), and severely diminished muscle tone (hypotonia). This rare disease occurs in about one in 100,000 people. Neuropediatrics. Danbury, CT 06810 The symptoms of classical Leigh syndrome (infantile necrotizing encephalopathy), a rapidly progressive neurological disorder, usually begin between the ages of 3 months and 2 years. The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings. PMID: 30346353. It is always important to discuss the effect of risk factors with your healthcare provider. Relief from pain, symptoms, and stress of the disorder can be sought through the following measures: Although, currently there is no cure for Neuropathy, Ataxia, and Retinitis Pigmentosa, the following extensive researches are being undertaken: National Organization for Rare Disorders (NORD)55 Kenosia Avenue Danbury, CT 06810Phone: (203) 744-0100Toll-Free: (800) 999-6673Fax: (203) 798-2291Email: orphan@rarediseases.orgWebsite: http://www.rarediseases.org, http://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa (accessed on 3/28/2015), http://www.ncbi.nlm.nih.gov/books/NBK1173/ (accessed on 3/28/2015), http://www.omim.org/entry/551500 (accessed on 3/28/2015), https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1156/viewAbstract (accessed on 3/28/2015). Progressive neurological deterioration associated with Leigh syndrome is marked by a variety of symptoms including generalized weakness, lack of muscle tone (hypotonia), clumsiness, tremors, muscle spasms (spasticity) that result in slow, stiff movements of the legs, and/or the absence of tendon reflexes. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). to maintaining your privacy and will not share your personal information without Mitochondria are structures within cells that convert the energy from food into a form that cells can use. 9. Small or large cysts may be present in the cerebral cortex of the brain. Electrophysiology examinations showed involvement of rods and cones in both eyes. In cases of Leigh syndrome that are inherited as an X-linked recessive trait, the symptoms typically develop during infancy. A 53-year-old male patient was diagnosed with cerebellar syndrome (dysarthria, nystagmus, and ataxia) in 2008 and with sensorineural hearing loss in 2009. Magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain may reveal abnormal areas in certain parts of the brain (i.e., basal ganglia, brain stem, and gray matter). Nesbitt V, Morrison PJ, Crushell E, et al. Pyruvate Dehydrogenase E1-Alpha Deficiency; PDHAD. NARP affects males and females in equal numbers [5] . Classic symptoms include motor regression, loss of appetite, vomiting, seizures, generalized weakness, hypotonia, and episodes of lactic acidosis[10]. mitochondrial DNA mutation: a clinical, genetic and neuropathological study. An inherited gene change (mutation) causes Leigh syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Phone: 617-249-7300, Danbury, CT office A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.. These signs and symptoms vary among affected individuals. Yuan, H., Yu, H., & Guy, J. Ann Neurol. Dev Disabil Res Rev. Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-associated Leigh syndrome and NARP. Common additional symptoms in NARP include seizures, migraines, learning disabilities, developmental delays, sensory neuropathies, and muscle weakness[3]. 1998;3:1, 7-10. 2010;133(10):2952-63. Previously acquired intellectual skills may diminish and intellectual disability may also occur. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Leighs disease due to a new mutation in the PDHX gene. NARP affects males and females in equal numbers [5] . Treatment NARP patients usually have 70-80% or less of mutated mitochondria. Some people with this disorder may experience a temporary symptomatic improvement and a slight slowing of the progression of the disease. Patients with suspected mitochondrial disease could greatly benefit from an ophthalmology examination. The ultimate goal of IAMRARE is to unite patients and research communities in the improvement of care and drug development. For more information, visitwww.rareconnect.org. Kernen and Kuusisto report on a patient with NARP that had generalized spike and wave discharges on EEG that preceded the development of adult-onset seizures[9]. Duno M, Wibrand F, Baggesen K, et al. Wolters Kluwer Health In most children, the first noticeable sign is the loss of previously acquired motor skills. [11], The severity and prognosis vary with the type of mutation involved. 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Some children with this disorder may have abnormal enlargement of the heart (hypertrophic cardiomyopathy) and overgrowth of the fibrous membrane that divides the various chambers of the heart (asymmetric septal hypertrophy). Initial symptoms are generally related to vision and may include such abnormalities as blurred filmy central visual fields (central scotoma), colorblindness, and/or progressive visual loss due to degeneration of the optic nerve (bilateral optic atrophy). TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and talipes equinovarus, as major features. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. PMID: 29224958. When this mutation is present in a higher percentage of a person's mitochondriagreater than 90 percent to 95 percentit causes a more severe condition known as maternally inherited Leigh syndrome. Philadelphia, PA: Lippincott Williams & Wilkins: 2003:436. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. NARP is a mitochondrial disease, and therefore transmitted by mothers to all offspring. By continuing to use this website, you agree to the Terms of Service & Privacy Policy. Regular surveillance (every 6-12 months) and psychological support may be helpful. This page is currently unavailable. Lyon G, Adams RD, Kolodny EH. Since only the mother passes mitochondria onto her children, mitochondrial DNA conditions are only caused by maternal transmission, Intellectual function may be impeded in individuals with NARP, Muscle weakness, problems with balance and coordination, Numbness, tingling sensation, and pain in the arms and legs, Impaired cognitive function, hearing loss, partial or total vision loss, Developmental delays and learning disabilities are common in childhood NARP-onset, short-stature, Episodes of deterioration may occur due to viral illnesses, Screening the family medical history and a complete neurological exam, Neurological testing (electromyography and nerve conduction) to test for neuropathy, MRI scan of the brain to view a size decrease (atrophy) in the cerebrum and cerebellum, Eye examinations to view retina deterioration, Genetic testing to see if the MT-ATP6 gene is mutated. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. Mitochondrial disease may be inherited. In addition, the patient underwent magnetic resonance imaging, an electrocardiogram, cerebrospinal fluid analysis with lactate levels, and a blood workup including antineuronal, antithyroid peroxidase, antinuclear, antimitochondrial, and antitransglutaminase antibodies and fat-soluble vitamins (A, D, E, K). Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in . Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome is a progressive neurodegenerative disorder caused by abnormalities in mitochondrial energy generation. Mitochondrial disease associated with the T8993G mutation of the mitochondrial PMID: 27015314. Neuropediatrics. Entry No: 256000. In the United States, most cases occur in alcoholics. Some medications to consider avoiding that may worsen NARP include sodium valproate, barbiturates, dichloroacetate, and anesthetics[11]. Epileptic Disord. Genetic information is contained in two types of DNA: nuclear DNA (nDNA) is contained in the nucleus of a cell and is inherited from both biological parents. Genes Brain Behav 2013;12:812820. (2013). Symptomatic relief is targeted. For the diagnosis, a multidisciplinary team including a neurologist, a geneticist, and an ophthalmologist was essential. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. PMID: 20953793; PMCID: PMC3068520. [6] Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Mordel, P., Schaeffer, S., Dupas, Q., Laville, M. A., Grard, M., Chapon, F., & Allouche, S. (2017). Type 2 and 3 don't happen very often. Neuropathy ataxia retinitis pigmentosa syndrome - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. When there is early onset (i.e., 3 months), loss of head control and poor sucking ability may be the first noticeable symptoms. Some risk factors are more important than others. Holt, I J et al. This pattern of inheritance applies to genes contained in mitochondrial DNA. The information on this site should not be used as a substitute for professional medical care or advice. The ocular fundus examination showed bone spicules with retinal pigment epithelium alteration, optic nerve pallor, and arterial attenuation. Please remove adblock to help us create the best medical content found on the Internet. Genetic diseases due to nDNA mutations (change in genetic material), are determined by two genes, one received from the father and one from the mother. Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult. The multidisciplinary diagnosis was fundamental, and achieved thorough collaboration between the neurology, ophthalmology, and genetics departments. cohort study. The work cannot be changed in any way or used commercially without permission from the journal. NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) Syndrome, Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa, Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is a rare genetic condition that causes a gradual deterioration of the nervous system in children and young adults, Individuals with NARP Syndrome experience numbness, tingling sensation or pain in the legs and arms (sensory neuropathy), muscle weakness associated with balance and coordination problems (ataxia), and degradation of light-sensing cells of the retina leading to blindness (retinitis pigmentosa), There is currently no cure and preventive measures available for Neuropathy, Ataxia, and Retinitis Pigmentosa; however, symptomatic treatment and medications can be provided, The average life expectancy of an individual with NARP Syndrome varies and is based on treatment effectiveness and the rate of neural degradation, Neuropathy, Ataxia, and Retinitis Pigmentosa is a rare disorder estimated to have a prevalence of about 1 in 100,000 live births. J Hum Genet. In the medical literature, the prevalence of Leigh syndrome has been estimated at 1 in 36,000-40,000 live births. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. The neurologic tests comprised electromyogram and muscle biopsy; the ophthalmologic examination consisted of slit-lamp and fundus examinations, optical coherence tomography, visual field testing, and electrophysiology tests such as a full-field electroretinogram and multifocal electroretinogram; and genetic tests were performed for spinocerebellar ataxia. Clinical symptoms can be heterogeneous. Generally, individuals with NARP become symptomatic in early childhood. Magnetic resonance imaging (MRI) and computerized tomography (CT) of the brain may demonstrate cerebral and cerebellar atrophy along with basal ganglia abnormalities[8]. A newborn with Leigh syndrome seems healthy at birth. 2002;52(6):750-4. The condition typically begins in childhood or early adulthood, and the signs and symptoms usually worsen over time. Although there is no cure, genetic counseling and supportive treatments should be considered and appropriate multi-disciplinary management (e.g., neurology, ophthalmology, cardiology) is recommended. Washington, DC 20036 This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. NARP syndrome is caused by a specific mutation affecting the mitochondrial gene known as the ATPase 6 gene. Treatment may require the coordinated efforts of a team of specialists. [citation needed], Neuropathy, ataxia, and retinitis pigmentosa is a condition related to changes in mitochondrial DNA. MIRAGE syndrome is a rare genetic disease that often leads to a fatal outcome. ), Neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome is a rare genetic disorder. The severity of the disorder is proportional to the percentage of mitochondria affected. Expanding the clinical phenotypes of MT-ATP6 mutations. Two years later, the patient showed worsening symptoms with dysdiadochokinesia, hyporeflexia in the lower limbs, and alteration of the deep sensitivity of feet with bilateral Babinski signs. described the first case of NARP in 1990[1]. Important Updates + Notice of Vendor Data Event . U.S. Department of Health and Human Services, Neurogenic muscle weakness, ataxia, and retinitis pigmentosa, Neuropathy, ataxia, and retinitis pigmentos. A mutation of the SF3B4 gene causes the condition. GeneReviews [Internet]. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. We also believe that it is necessary to perform MT-ATP6 gene sequencing in patients with NARP syndrome when the gene is not identified. Lpez-Gallardo E, Emperador S, Solano A, et al. Neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome is a rare genetic disorder. Acta None of the authors has any financial/conflicting interests to disclose. In some rare cases, Leigh syndrome may begin during late adolescence or early adulthood (adult-onset subacute necrotizing encephalomyelopathy). When these two disorders occur together, the term Wernicke-Korsakoff syndrome is used. Couser, N., and M. Gucsavas-Calikoglu. These cases are sometimes referred to as maternally inherited Leigh syndrome (MILS) or mtDNA-associated Leigh syndrome. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. Santorelli FM, The mutation at nt 8993 of mitochondrial DNA is a common cause of Leighs syndrome. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can inherit disorders resulting from mtDNA mutations only from their mother. 1999 Feb;83(2):190-3. doi: For example, mutations of the SURF1 gene located on chromosome 9 causes Leigh syndrome associated with cytochrome C oxidase deficiency. There is no cure for NARP and the treatment is largely supportive including treatments for acute acidosis (e.g., sodium bicarbonate or sodium citrate), anticonvulsants, dystonia (e.g., baclofen, gabapentin), and cardiomyopathy. Claeys KG, Abicht A, Husler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J. The m.8993T> C/G mutation is the most prevalent, described by Thorburn et al.1 Nowadays, several mutations are known to cause the syndrome: m.8839G> C,2 m.8989 G > C,3 m.8618insT, p.Thr33Hisfs*32,4 and 9185T > C.5 If no variant of pathogenic MT-ATP6 is identified, however, mitochondrial genome analysis should be performed.5. Genetic counseling is recommended for families of affected individuals with this disorder. To use the sharing features on this page, please enable JavaScript. Seattle; 1993-2023. You may search for similar articles that contain these same keywords or you may may email you for journal alerts and information, but is committed (For more information on this disorder, choose Tay-Sachs as your search term in the Rare Disease Database. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. Neuropathy, Ataxia and Retinitis Pigmentosa. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. Please try again soon. This eye disease causes the light-sensing cells of the retina gradually to deteriorate. R. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease Online Mendelian Inheritance in Man (OMIM). (For more information on this disorder, choose Wernicke as your search term in the Rare Disease Database. The pathogenic variant may also interfere with the structure and stability of the ATP synthase.
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