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1.
Neurooncol Adv ; 4(1): vdac123, 2022.
Article in English | MEDLINE | ID: mdl-36225651

ABSTRACT

Background: Systemic therapies for refractory meningiomas are limited with no FDA-approved therapeutics. Vascular endothelial growth factor (VEGF) is a signaling protein associated with neovascularization, peritumoral edema, and meningioma tumorigenesis. Methods: This phase II study investigates the efficacy of bevacizumab (BEV), a VEGF binding monoclonal antibody, in patients with progressive Grade I (G1M), Grade II (G2M), Grade III (G3M) meningioma, and other non-parenchymal tumors including vestibular schwannoma (n = 4) and hemangiopericytoma (n = 4) with the primary endpoint of progression-free survival rate at 6-months (PFS-6). Non-meningiomas were included with the respective meningioma grade in the analysis. Secondary endpoints include median overall survival (mOS) and response rate. Results: Fifty Patients (26 women; median age 54 years; range 23-81), 42 with progressive meningioma were treated: 10 G1M, 20 G2M, and 12 G3M. Prior treatments include surgical resection (41 patients), radiosurgery (24 patients), external beam radiotherapy (28 patients), and chemotherapy (14 patients). Median infusions administered were 16 (range, 2-68). Response was graded using the Macdonald's criteria. PFS-6, median PFS, and mOS were 87%, 22 months, 35 months for G1M; 77%, 23 months, 41 months for G2M; and 46%, 8 months, 12 months for G3M. Best radiographic responses include stable disease (G1M: 100%; G2M: 85%; G3M: 82%); partial response (G1M: 0%; G2M: 5%; G3M: 0%) and progressive disease (G1M: 0%; G2M: 10%; G3M:18%). The most common toxicities were hypertension (n = 19, 42.2%), proteinuria (n = 16, 35.6%), and fatigue (n = 14, 31.1%). Conclusion: This study showed BEV is well tolerated and appears to be a promising systemic treatment option for patients with recurrent and refractory meningiomas.

2.
Front Neurol ; 8: 478, 2017.
Article in English | MEDLINE | ID: mdl-28955300

ABSTRACT

BACKGROUND: Unlike many other central nervous system (CNS) tumors, the surgical management of primary central nervous system lymphomas (PCNSL) is traditionally limited by diagnostic biopsy. Studies that predate the use of modern neurosurgical techniques have reported a prohibitive operative morbidity for this surgery. These early experiences have dictated the non-surgical management of PCNSL, whereas resection for cytoreduction is a mainstay of treatment in other CNS malignancies. Recent studies have suggested that craniotomy with the goal of cytoreduction might be associated with a favorable overall and progression-free survival for some patients with PCNSL. To challenge the traditional non-surgical paradigm, it is essential to first investigate the safety of resection for PCNSL. METHODS: To determine the operative morbidity of resection for this disease, we performed a population-based assessment of complications using the nationwide inpatient sample database for the years 1998-2013 for biopsies and open craniotomies for PCNSL and other brain tumors. RESULTS: Among 95 patients who underwent biopsy and 34 patients who underwent craniotomy, we found no significant difference in complication rates between craniotomy for resection and biopsy procedures for PCNSL (23.16 versus 20.59%). The types of complications differ between diagnoses, with the PCNSL cohort suffering mainly medical complications and the non-PCNSL cohort suffering mainly from neurological complications. CONCLUSION: These findings support the safety of craniotomies in PCNSL and help provide a rationale for future prospective studies to evaluate the safety and efficacy of resection for this disease.

3.
Arq Neuropsiquiatr ; 61(3A): 687-90, 2003 Sep.
Article in English | MEDLINE | ID: mdl-14513182

ABSTRACT

Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.


Subject(s)
Myopathy, Central Core/complications , Spondylitis, Ankylosing/complications , Biopsy , Humans , Male , Middle Aged , Myopathy, Central Core/pathology , Spondylitis, Ankylosing/pathology
4.
Arq. neuropsiquiatr ; 61(3A): 687-690, Sept. 2003. ilus
Article in English | LILACS | ID: lil-345786

ABSTRACT

Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed


Subject(s)
Humans , Male , Middle Aged , Myopathy, Central Core , Spondylitis, Ankylosing , Biopsy , Myopathy, Central Core , Spondylitis, Ankylosing
5.
Arq Neuropsiquiatr ; 61(2A): 262-4, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12806508

ABSTRACT

Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.


Subject(s)
AMP Deaminase/deficiency , Myotonia Congenita/enzymology , Biopsy , Child , Humans , Male , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Myotonia Congenita/pathology
6.
Arq. neuropsiquiatr ; 61(2A): 262-264, Jun. 2003.
Article in English | LILACS | ID: lil-339498

ABSTRACT

Approximately 1-2 percent of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental


Subject(s)
Humans , Male , Child , AMP Deaminase , Myotonia Congenita , Biopsy , Muscles , Myotonia Congenita
7.
Arq Neuropsiquiatr ; 61(1): 119-20, 2003 Mar.
Article in Portuguese | MEDLINE | ID: mdl-12715034

ABSTRACT

We report the case of a 30-year-old woman with a 7-year history of distal lower limbs weakness that evolved to upper limbs weakness. On neurological examination, she presented normal cranial nerves, bilateral quadriceps and feet interosseous atrophy, normal muscular tonus, muscular weakness more severe in dorsal feet interosseous and anterior tibial, and decreased deep tendon reflexes. Repetitive nerve stimulation of the ulnar and fibular nerves showed a decrement greater than 10% of the compound muscle action potential. Antibody against acetylcholine receptor titer was positive. Computed tomography scan of the thorax was normal. Thyroid function tests showed evidence of hyperthyroidism. Distal muscular weakness is a rare onset presentation of myasthenia gravis. However, myasthenia gravis must be considered in the differential diagnosis of distal limb weakness.


Subject(s)
Muscle Weakness/etiology , Myasthenia Gravis/complications , Adult , Diagnosis, Differential , Electric Stimulation/methods , Female , Humans , Leg , Muscle Contraction , Muscle Weakness/diagnosis , Myasthenia Gravis/diagnosis
8.
Arq. neuropsiquiatr ; 61(1): 119-120, mar. 2003. ilus
Article in Portuguese | LILACS | ID: lil-331173

ABSTRACT

Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evoluçäo apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, reduçäo da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulaçäo repetitiva que mostrou decremento maior que 10 por cento no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG). Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores


Subject(s)
Humans , Female , Adult , Muscle Weakness , Myasthenia Gravis , Diagnosis, Differential , Electric Stimulation , Leg , Muscle Contraction , Muscle Weakness , Myasthenia Gravis
9.
Arq. neuropsiquiatr ; 59(3B): 740-745, Sept. 2001. graf, tab
Article in Portuguese | LILACS | ID: lil-295842

ABSTRACT

Realizamos análise epidemiológica de 164 pacientes com AVC, cujo primeiro episódio ocorreu entre 15 e 49 anos de idade através de um estudo retrospectivo de pacientes ambulatoriais. O principal tipo de apresentaçäo foi AVC isquêmico (AVCI) em 141 pacientes, ocorrendo AVC hemorrágico (AVCH) em16 casos e 7 pacientes com trombose venosa. A presença de fatores de risco aterotrombóticos foi prevalente, em 48,22 por cento dos pacientes com AVCI sendo que a hipertensäo arterial sistêmica (HAS), nos casos de AVCH, foi a etiologia mais frequente. Em 32 por cento dos casos näo se pode determinar a sua causa. Embora a populaçäo jovem possua determinantes diferentes e geralmente deva ter uma investigaçäo etiológica mais abrangente, no grupo estudado foram prevalentes os fatores de risco conhecidos e potencialmente controláveis, sugerindo que campanhas de prevençäo e detecçäo precoce devam ser incentivados


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Stroke/epidemiology , Brazil/epidemiology , Intracranial Embolism and Thrombosis/complications , Prevalence , Retrospective Studies , Risk Factors , Stroke/etiology
10.
Arq. neuropsiquiatr ; 59(3B): 790-792, Sept. 2001. ilus
Article in English | LILACS | ID: lil-295850

ABSTRACT

Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries


Subject(s)
Humans , Male , Female , Adolescent , Corpus Callosum/abnormalities , Spastic Paraplegia, Hereditary/genetics , Brazil , Corpus Callosum/pathology , White People , Magnetic Resonance Imaging , Spastic Paraplegia, Hereditary/diagnosis , Spastic Paraplegia, Hereditary/pathology
11.
Arq. neuropsiquiatr ; 59(3B): 809-811, Sept. 2001. ilus
Article in English | LILACS | ID: lil-295855

ABSTRACT

Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD


Subject(s)
Humans , Female , Adult , Machado-Joseph Disease/genetics , Spastic Paraplegia, Hereditary/genetics , Diagnosis, Differential , Machado-Joseph Disease/complications , Machado-Joseph Disease/diagnosis , Pedigree , Phenotype , Spastic Paraplegia, Hereditary/complications
12.
Arq. neuropsiquiatr ; 59(2A): 259-262, June 2001. ilus
Article in English | LILACS | ID: lil-288632

ABSTRACT

We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous


Subject(s)
Humans , Female , Child, Preschool , Contracture/congenital , Marfan Syndrome/genetics , Contracture/complications , Exons , Marfan Syndrome/complications , Muscular Atrophy/complications , Muscular Atrophy/congenital , Muscular Atrophy/pathology
13.
Arq. neuropsiquiatr ; 59(2B): 347-352, Jun. 2001. ilus, tab
Article in English | LILACS | ID: lil-286414

ABSTRACT

We report on the clinical course and histopathologic muscle alterations of five patients diagnosed with neurosarcoidosis, who underwent biopsy due to their muscle manifestations. The five patients were females and only one was less than 40 years of age. Proximal muscle weakness was presented by all and only two patients complained of myalgia. Only normal values of serum muscle enzymes were detected. Electromyography revealed diverse findings such as normal, myopathic and neuropathic patterns. Granuloma was not present in one muscle biopsy. Two patients thoroughly recovered by taking only prednisone and one patient required a methotrexate addition for 3 months before becoming asymptomatic. The other two patients received azathioprine, one due to steroid side effects but without a satisfactory evolution, and the other to strengthen the prednisone régime, with excellent results


Subject(s)
Humans , Female , Adolescent , Adult , Middle Aged , Central Nervous System Diseases/pathology , Muscles/pathology , Muscular Diseases/pathology , Sarcoidosis/pathology , Anti-Inflammatory Agents/therapeutic use , Biopsy , Central Nervous System Diseases/drug therapy , Central Nervous System Diseases/physiopathology , Muscle Weakness/diagnosis , Muscles/physiopathology , Muscular Diseases/drug therapy , Muscular Diseases/physiopathology , Prednisone/therapeutic use , Sarcoidosis/drug therapy , Sarcoidosis/physiopathology
14.
Arq. neuropsiquiatr ; 57(3A): 659-65, set. 1999. tab
Article in Portuguese | LILACS | ID: lil-242273

ABSTRACT

A síndrome do desfiladeiro torácico neurogênica verdadeira é entidade rara que resulta da compressão ou estreitamento do tronco inferior do plexo braquial por costela cervical, banda fibrosa ou processo transverso da sétima vértebra cervical alongado. Descrevemos os casos de duas mulheres (23 e 19 anos de idade) com história de dor em membro superior direito, fraqueza e atrofia progressiva da musculatura intrínseca da mão. Estudos eletrofisiológicos mostraram diminuição da amplitude do potencial de ação muscular composto do nervo mediano e diminuição da amplitude do potencial de ação do nervo ulnar sensitivo. As velocidades de condução nervosa motora e sensitiva foram normais em ambos os casos. Eletromiografia de agulha mostrou desinervação crônica da musculatura intrínseca da mão direita de ambas as pacientes. Investigação radiológica mostrou costelas cervicais em um caso e processos transversos da sétima vértebra cervical alongados no outro. São revisados os aspectos clínicos, eletrofisiológicos e tratamento da síndrome.


Subject(s)
Adult , Female , Humans , Thoracic Outlet Syndrome/diagnosis , Diagnosis, Differential , Electromyography , Muscular Atrophy/pathology , Neural Conduction/physiology , Thoracic Outlet Syndrome/pathology
15.
Arq. neuropsiquiatr ; 57(2B): 484-8, jun. 1999. ilus, tab
Article in English | LILACS | ID: lil-236079

ABSTRACT

Neurofibromatosis type (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.


Subject(s)
Humans , Male , Middle Aged , Cerebrovascular Disorders/etiology , Neurofibromatosis 1/complications , Platybasia/etiology , Cerebrovascular Disorders/diagnosis , Moyamoya Disease , Neurofibromatosis 1/diagnosis , Platybasia/diagnosis , Syndrome
16.
Arq. neuropsiquiatr ; 56(3A): 388-97, set. 1998. ilus, tab
Article in Portuguese | LILACS | ID: lil-215295

ABSTRACT

Encontramos 16 casos com vacúolos marginados entre 1400 biópsias musculares cujo diagnóstico final foi miosite com corpos de inclusao citoplasmática esporádica (MCIC) (4 casos), atrofia muscular espinhal juvenil (6 casos), miopatias distais (3 casos), distrofia das cinturas pélvica e escapular (2 casos) e neuropatia periférica (1 caso). Foram utilizados anticorpos monoclonais contra linfócitos T totais e subpopulaçoes (CD4+ e CD8+), linfócitos B, macrófagos, células exterminadoras naturais (NK), imunoglobulinas e porçao C3 do complemento. A análise foi quantitativa e de acordo com o local de acúmulo (interstício, intra-fibra e perivascular). Linfócitos CD8+ foram encontrados no interstício na maioria dos casos, sendo menos comuns dentro das fibras musculares e raros no espaço perivascular. Os casos de MCIC apresentaram maior número de linfócitos CD8+ se comparados às outras doenças. A proporçao de células CD8+/CD4+ foi maior na MCIC do que nas outras doenças. Existiam macrófagos em grande proporçao na MCIC, miopatias distais e em um dos casos de distrofia das cinturas pélvica e escapular. Células NK foram frequentes no interstício nos casos de MCIC e mais raras nas outras doenças. Houve maior depósito de imunoglobulinas e complemento nos casos de MCIC do que nas demais doenças. O grande número de células CD8+ e a relaçao CD8+/CD4+ podem auxiliar no diagnóstico diferencial da MCIC de outras doenças neuromusculares com vacúolos marginados.


Subject(s)
Humans , Female , Adult , Child , Aged , Middle Aged , Adolescent , Myositis, Inclusion Body/pathology , Neuromuscular Diseases/pathology , Immunohistochemistry , Lymphocytes/chemistry , Macrophages/chemistry , Spinal Muscular Atrophies of Childhood/pathology , Vacuoles
17.
Arq. neuropsiquiatr ; 56(3A): 480-5, set. 1998. ilus
Article in Portuguese | LILACS | ID: lil-215309

ABSTRACT

A ossificaçao do ligamento longitudinal posterior (OLLP) é causa incomum de mielopatia compressiva na populaçao caucasiana. É relatado o caso de um paciente do sexo masculino com um quadro de paraparesia espástica, cuja investigaçao radiológica mostrou OLLP. O raio-X de coluna cervical mostrou imagem laminar, vertical, com densidade óssea, posterior aos corpos vertebrais, que se estendia de C2 a T1. A tomografia computadorizada (TC) e a mielotomografia mostravam OLLP causando compressao medular ântero-posterior no seguimento descrito. Na ressonância magnética, observou-se área de hiperintensidade em T2 no segmento C7-T1, compatível com mielomalácia. O paciente foi submetido a laminoplastia tipo "open-door", com melhora do quadro parético dos membros inferiores. A OLLP deve entrar no diagnóstico diferencial das mielopatias cervicais, sendo facilmente diagnosticada através de radiografias e TC da coluna cervical. Sao revisados os aspectos clínicos e radiológicos e o tratamento da OLLP.


Subject(s)
Humans , Middle Aged , Male , Ossification of Posterior Longitudinal Ligament/complications , Paraparesis, Tropical Spastic/etiology , Spinal Cord Compression , White People , Myelography , Ossification of Posterior Longitudinal Ligament/surgery , Spinal Cord
18.
Arq. neuropsiquiatr ; 55(4): 780-7, dez. 1997. ilus, tab
Article in Portuguese | LILACS | ID: lil-209377

ABSTRACT

Uma proporçäo variável de pacientes com distrofia muscular congênita (DMC) da forma clássica ou ocidental apresenta deficiência de cadeia alpha2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padräo de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD) e sete pacientes eram merosina-positiva (MP). Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulaçäo, enquanto quatro dos sete pacientes MP atingiram deambulaçäo sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos näo foi estatisticamente significativa. Estudo da conduçäo nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuiçäo da velocidade de conduçäo nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, näo foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciaçäo entre os casos MP e MD serve para fim de pronóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que nao existe relaçäo entre a ausência de merosina e as alteraçöes histológicas encontradas na biópsia musular.


Subject(s)
Humans , Male , Female , Child, Preschool , Infant , Child , Adolescent , Laminin/deficiency , Muscular Dystrophies/congenital , Immunohistochemistry , Muscular Dystrophies/metabolism
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