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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | CRUZ, Pedro M. Rodriguez | |
dc.contributor.author | COSSINS, Judith | |
dc.contributor.author | ESTEPHAN, Eduardo de Paula | |
dc.contributor.author | MUNELL, Francina | |
dc.contributor.author | SELBY, Kathryn | |
dc.contributor.author | HIRANO, Michio | |
dc.contributor.author | MAROOFIN, Reza | |
dc.contributor.author | MEHRJARDI, Mohammad Yahya Vahidi | |
dc.contributor.author | CHOW, Gabriel | |
dc.contributor.author | CARR, Aisling | |
dc.contributor.author | MANZUR, Adnan | |
dc.contributor.author | ROBB, Stephanie | |
dc.contributor.author | MUNOT, Pinki | |
dc.contributor.author | LIU, Wei Wei | |
dc.contributor.author | BANKA, Siddharth | |
dc.contributor.author | FRASER, Harry | |
dc.contributor.author | GOEDE, Christian De | |
dc.contributor.author | ZANOTELI, Edmar | |
dc.contributor.author | REED, Umbertina Conti | |
dc.contributor.author | SAGE, Abigail | |
dc.contributor.author | GRATACOS, Margarida | |
dc.contributor.author | MACAYA, Alfons | |
dc.contributor.author | DUSL, Marina | |
dc.contributor.author | SENDEREK, Jan | |
dc.contributor.author | TOPF, Ana | |
dc.contributor.author | HOFER, Monika | |
dc.contributor.author | KNIGHT, Ravi | |
dc.contributor.author | RAMDAS, Sithara | |
dc.contributor.author | JAYAWANT, Sandeep | |
dc.contributor.author | LOCHMUELLER, Hans | |
dc.contributor.author | PALACE, Jacqueline | |
dc.contributor.author | BEESON, David | |
dc.date.accessioned | 2019-09-23T14:18:45Z | - |
dc.date.available | 2019-09-23T14:18:45Z | - |
dc.date.issued | 2019 | |
dc.identifier.citation | BRAIN, v.142, p.1547-1560, 2019 | |
dc.identifier.issn | 0006-8950 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/33503 | - |
dc.description.abstract | Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. Here, we report the phenotypic spectrum of 16 patients from 11 kinships harbouring homozygous or heteroallelic mutations in COL13A1. Clinical presentation was mostly at birth with hypotonia and breathing and feeding difficulties often requiring ventilation and artificial feeding. Respiratory crisis related to recurrent apnoeas, sometimes triggered by chest infections, were common early in life but resolved over time. The predominant pattern of muscle weakness included bilateral ptosis (non-fatigable in adulthood), myopathic facies and marked axial weakness, especially of neck flexion, while limb muscles were less involved. Other features included facial dysmorphism, skeletal abnormalities and mild learning difficulties. All patients tested had results consistent with abnormal neuromuscular transmission. Muscle biopsies were within normal limits or showed non-specific changes. Muscle MRI and serum creatine kinase levels were normal. In keeping with COL13A1 mutations affecting both synaptic structure and presynaptic function, treatment with 3,4-diaminopyridine and salbutamol resulted in motor and respiratory function improvement. In non-treated cases, disease severity and muscle strength improved gradually over time and several adults recovered normal muscle strength in the limbs. In summary, patients with COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficulties. Axial weakness is greater than limb weakness. Disease course improves gradually over time, which could be consistent with the less prominent role of COL13A1 once the neuromuscular junction is mature. This report emphasizes the role of collagens at the human muscle endplate and should facilitate the recognition of this disorder, which can benefit from pharmacological treatment. | eng |
dc.description.sponsorship | UK NHS National Highly Specialised Service | |
dc.description.sponsorship | MRC Programme Grant [MR/M006824/1] | |
dc.description.sponsorship | USP [PRPG 3/2017] | |
dc.language.iso | eng | |
dc.publisher | OXFORD UNIV PRESS | eng |
dc.relation.ispartof | Brain | |
dc.rights | restrictedAccess | eng |
dc.subject | congenital myasthenic syndromes | eng |
dc.subject | COL13A1 | eng |
dc.subject | synaptic basal lamina | eng |
dc.subject | salbutamol | eng |
dc.subject | 3,4-diaminopyridine | eng |
dc.subject.other | king-denborough-syndrome | eng |
dc.subject.other | xiii collagen | eng |
dc.subject.other | receptor | eng |
dc.subject.other | insensitivity | eng |
dc.subject.other | expression | eng |
dc.subject.other | maturation | eng |
dc.subject.other | anhidrosis | eng |
dc.subject.other | gene | eng |
dc.subject.other | pain | eng |
dc.title | The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations | eng |
dc.type | article | eng |
dc.rights.holder | Copyright OXFORD UNIV PRESS | eng |
dc.identifier.doi | 10.1093/brain/awz107 | |
dc.identifier.pmid | 31081514 | |
dc.subject.wos | Clinical Neurology | eng |
dc.subject.wos | Neurosciences | eng |
dc.type.category | original article | eng |
dc.type.version | publishedVersion | eng |
hcfmusp.author.external | CRUZ, Pedro M. Rodriguez:Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, Oxford OX3 9DS, England; Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England | |
hcfmusp.author.external | COSSINS, Judith:Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, Oxford OX3 9DS, England | |
hcfmusp.author.external | MUNELL, Francina:Hosp Univ Vall dHebron, Vall dHebron Res Inst VHIR, Child Neurol Unit, Neuromuscular Disorders Grp, Barcelona, Spain | |
hcfmusp.author.external | SELBY, Kathryn:Univ British Columbia, Vancouver, BC, Canada | |
hcfmusp.author.external | HIRANO, Michio:Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY USA | |
hcfmusp.author.external | MAROOFIN, Reza:St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England | |
hcfmusp.author.external | MEHRJARDI, Mohammad Yahya Vahidi:Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran | |
hcfmusp.author.external | CHOW, Gabriel:Nottingham Univ Hosp NHS Trust, Nottingham City Hosp, Dept Paediat Neurol, Hucknall Rd, Nottingham NG5 1PB, England | |
hcfmusp.author.external | CARR, Aisling:Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England | |
hcfmusp.author.external | MANZUR, Adnan:UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 3JH, England; UCL Great Ormond St Inst Child Hlth, MRC Ctr Neuromuscular Dis, London WC1N 3JH, England | |
hcfmusp.author.external | ROBB, Stephanie:UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 3JH, England; UCL Great Ormond St Inst Child Hlth, MRC Ctr Neuromuscular Dis, London WC1N 3JH, England | |
hcfmusp.author.external | MUNOT, Pinki:UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 3JH, England; UCL Great Ormond St Inst Child Hlth, MRC Ctr Neuromuscular Dis, London WC1N 3JH, England | |
hcfmusp.author.external | LIU, Wei Wei:Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, Oxford OX3 9DS, England | |
hcfmusp.author.external | BANKA, Siddharth:Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Hlth Innovat Manchester, Manchester M13 9WL, Lancs, England | |
hcfmusp.author.external | FRASER, Harry:Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Hlth Innovat Manchester, Manchester M13 9WL, Lancs, England | |
hcfmusp.author.external | GOEDE, Christian De:Royal Preston Hosp, Dept Paediat Neurol, Preston PR2 9HT, Lancs, England | |
hcfmusp.author.external | SAGE, Abigail:Columbia Univ, Dept Neurol, H Houston Merritt Neuromuscular Res Ctr, Med Ctr, New York, NY USA | |
hcfmusp.author.external | GRATACOS, Margarida:Hosp Univ Vall dHebron, Dept Clin Neurophysiol, Barcelona, Spain | |
hcfmusp.author.external | MACAYA, Alfons:Hosp Univ Vall dHebron, Vall dHebron Res Inst VHIR, Child Neurol Unit, Neuromuscular Disorders Grp, Barcelona, Spain | |
hcfmusp.author.external | DUSL, Marina:Univ Hosp LMU Munich, Friedrich Baur Inst, Dept Neurol, Munich, Germany | |
hcfmusp.author.external | SENDEREK, Jan:Univ Hosp LMU Munich, Friedrich Baur Inst, Dept Neurol, Munich, Germany | |
hcfmusp.author.external | TOPF, Ana:Inst Genet Med, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England | |
hcfmusp.author.external | HOFER, Monika:John Radcliffe Hosp NHS Fdn Trust, Dept Neuropathol, Oxford OX3 9DU, England | |
hcfmusp.author.external | KNIGHT, Ravi:John Radcliffe Hosp NHS Fdn Trust, Dept Clin Neurophysiol, Oxford OX3 9DU, England | |
hcfmusp.author.external | RAMDAS, Sithara:John Radcliffe Hosp NHS Fdn Trust, Dept Paediat Neurol, Oxford OX3 9DU, England | |
hcfmusp.author.external | JAYAWANT, Sandeep:John Radcliffe Hosp NHS Fdn Trust, Dept Paediat Neurol, Oxford OX3 9DU, England | |
hcfmusp.author.external | LOCHMUELLER, Hans:Univ Freiburg, Fac Med, Dept Neuropediat & Muscle Disorders, Med Ctr, Freiburg, Germany; Barcelona Inst Sci & Technol, Ctr Genom Regulat, Ctr Nacl Anal Genom CNAG CRG, Barcelona, Spain; Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada; Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON, Canada | |
hcfmusp.author.external | PALACE, Jacqueline:Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England | |
hcfmusp.author.external | BEESON, David:Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, Oxford OX3 9DS, England | |
hcfmusp.description.beginpage | 1547 | |
hcfmusp.description.endpage | 1560 | |
hcfmusp.description.volume | 142 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.id | WOS:000481419700016 | |
hcfmusp.origem.id | 2-s2.0-85066964236 | |
hcfmusp.publisher.city | OXFORD | eng |
hcfmusp.publisher.country | ENGLAND | eng |
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dc.description.index | MEDLINE | eng |
dc.identifier.eissn | 1460-2156 | |
hcfmusp.citation.scopus | 27 | - |
hcfmusp.scopus.lastupdate | 2024-03-29 | - |
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