about
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphateMyotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth diseaseRegulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphataseSkeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsStructure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidationMutations in dynamin 2 cause dominant centronuclear myopathyThe lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceExtracellular annexins and dynamin are important for sequential steps in myoblast fusion.Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphateCongenital myopathies at their molecular dawning.Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome.Characterization and functional studies of a FYVE domain-containing phosphatase in C. elegansCongenital myopathies--a comprehensive update of recent advancements.A rising titan: TTN review and mutation update.Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms.Electromyographic findings in the so-called non-progressive myopathies.Electromyography in infants and children.Congenital hypotonia revisited.Non-dystrophic, myogenic myopathies with onset in infancy or childhood. A review of some characteristic syndromes.Proximal muscle weakness in children.Centronuclear myopathy: possible central nervous system origin.Adult onset centronuclear myopathy with peripheral nerve involvement.Extraocular muscle biopsy in chronic progressive external ophthalmoplegia.Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.RYR1 mutations are a common cause of congenital myopathies with central nuclei.The natural history of minicore-multicore myopathy.Centronuclear myopathy: clinical and pathologic features. Unlike early onset myotonic dystrophy, this condition is not associated with mental retardation or clinical or electric evidences of myotonia.Difficulties in the prenatal diagnosis of myotubular myopathy by ultrasonography.General anesthesia in an infant with X-linked myotubular myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Central nervous system involvement in X-linked myotubular myopathy.Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome.Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.Anaesthesia in myotubular (centronuclear) myopathy.Mitochondrial alterations in dynamin 2-related centronuclear myopathy.Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy.Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy
P2860
Q22254632-CE2CF98A-494A-44FF-AC11-7437B395250FQ24291963-881CAEA1-A933-406E-9036-016994A359A1Q24299014-13294639-A9DB-410C-BD23-7C8AC855BEB2Q26773024-CEBEE39B-FC7A-41FF-AE5D-FB0463EF5E03Q27701466-2D332D0A-53E1-44F0-9CBA-66C6119EEC67Q28277269-B20C7808-2A27-49EF-83B6-6587CCE37D9DQ28592271-C9F89F02-D403-435A-AC14-00FBA7F3D909Q30532065-D9E43531-CD99-484D-A12A-9B81261AE545Q30855431-3A8D6B40-BF99-4B8D-B30A-A4871385F1A4Q34743273-60746DC5-C5AB-4542-AD7C-2DE1722A17EEQ35011121-34EC1F8B-95BB-48A5-913B-F440988F8CC9Q35112060-7202F3BD-027B-4AAF-A212-5F8DC6B25528Q36724364-7351B9AD-1408-431C-B0C5-6AE04D26F9E2Q36879001-CF3B00D6-6B6B-4C3A-A607-DC0506C3051DQ36926604-D52D879D-C4DC-4B5D-AA48-AF51B02A25C4Q37365635-3B3D9B41-73A5-43B4-9BE8-5811CD787570Q38224878-18226B08-459E-46AC-B457-0160585ACE8DQ38715036-C9582796-4530-45C5-91F7-8009D92CFFAEQ39366938-509B1B2A-E765-4124-A659-D85AE386FADDQ39509924-5F76F820-92D6-44B3-9CE6-B499047F1FF2Q39857193-DE9645D9-CDD6-4774-95BB-24CC37C1413FQ40251718-2CD93DCD-8FA9-4B1F-9C21-EC2363E69187Q40366707-3D13D577-79CB-43BB-9870-3F311DBA923FQ41046452-78797A27-B975-45FA-B864-3CD06FB3E4D4Q41542556-9F9F69E2-F8AD-4A67-8A31-638917D2D1BEQ41767154-3DB8DD0E-067D-4C1C-A495-3B24D8A0C23BQ41932869-4BF724C2-7778-4892-9A6F-186ABE3082E4Q42908171-E1CACD57-7D8C-43AF-A269-B6B8CC5507B3Q44063498-4ACB686E-0E96-4B47-9DD8-452AE41C0067Q44785155-B9857D73-6F9E-4843-B3D3-35E011288926Q44960341-E81DEF5C-8D7D-4D98-92F3-F16FD40413A0Q45120713-D29CECE5-0F19-40A5-9633-1C60E18F10B2Q47134873-FF3429A9-7D0C-4D02-A2A8-19B9E9E06E17Q48819402-2629886D-3185-4082-B665-197EC5E55969Q50595378-15713539-633A-426F-A6C0-7876774A5F0DQ51315516-A65BCF21-78A9-4514-A68C-46EBA1724219Q51404034-ECC34C15-F25F-4B52-9A68-34CB822285B4Q51745996-C6D1E4BF-5AF5-48FB-BDAB-AA699BC77500Q52229600-8DBD9C7F-F6E9-48A0-BD28-D3312BCEF211Q57387357-D6612049-6C18-4347-9D3D-B570038767E3
P2860
description
1966 nî lūn-bûn
@nan
1966 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1966 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1966年の論文
@ja
1966年論文
@yue
1966年論文
@zh-hant
1966年論文
@zh-hk
1966年論文
@zh-mo
1966年論文
@zh-tw
1966年论文
@wuu
name
Myotubular Myopathy
@ast
Myotubular Myopathy
@en
type
label
Myotubular Myopathy
@ast
Myotubular Myopathy
@en
prefLabel
Myotubular Myopathy
@ast
Myotubular Myopathy
@en
P1433
P1476
Myotubular Myopathy
@en
P2093
ALFRED J. SPIRO
P356
10.1001/ARCHNEUR.1966.00470070005001
P577
1966-01-01T00:00:00Z