Myotubular/centronuclear myopathy and central core disease
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Alt...
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| Veröffentlicht in: | Neurology India 2008-07, Vol.56 (3), p.325-332 |
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| creator | Fujimura-Kiyono, Chieko Racz, Gabor Z Nishino, Ichizo |
| description | The term congenital myopathy is applied to muscle disorders presenting
with generalized muscle weakness and hypotonia from early infancy with
delayed developmental milestones. The congenital myopathies have been
classified into various categories based on morphological findings on
muscle biopsy. Although the clinical symptoms may seem homogenous, the
genetic basis is remarkably variable. This review will focus on
myotubular myopathy, centronuclear myopathy, central core disease, and
congenital neuromuscular disease with uniform Type 1 fiber, myopathies
that are subjects of our ongoing examinations. |
| doi_str_mv | 10.4103/0028-3886.43451 |
| format | Article |
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with generalized muscle weakness and hypotonia from early infancy with
delayed developmental milestones. The congenital myopathies have been
classified into various categories based on morphological findings on
muscle biopsy. Although the clinical symptoms may seem homogenous, the
genetic basis is remarkably variable. This review will focus on
myotubular myopathy, centronuclear myopathy, central core disease, and
congenital neuromuscular disease with uniform Type 1 fiber, myopathies
that are subjects of our ongoing examinations.</description><identifier>ISSN: 0028-3886</identifier><identifier>EISSN: 1998-4022</identifier><identifier>DOI: 10.4103/0028-3886.43451</identifier><identifier>PMID: 18974559</identifier><language>eng</language><publisher>India: Medknow Publications on behalf of the Neurological Society of India</publisher><subject>Care and treatment ; Central core disease, centronuclear myopathy, congenital myopathy, congenital neuromuscular disease with uniform Type 1 fibers, myotubular myopathy ; Central core myopathy ; Development and progression ; Diagnosis ; Disease ; Evaluation ; Fibers ; Gene mutations ; Genetic aspects ; Genotype & phenotype ; Health aspects ; Humans ; Identification and classification ; Intellectual disabilities ; Muscle Fibers, Skeletal - pathology ; Muscles ; Muscular dystrophy ; Muscular system ; Myopathies, Structural, Congenital - genetics ; Myopathies, Structural, Congenital - pathology ; Myopathies, Structural, Congenital - physiopathology ; Myopathy, Central Core - genetics ; Myopathy, Central Core - pathology ; Myopathy, Central Core - physiopathology ; Neuromuscular diseases ; Properties</subject><ispartof>Neurology India, 2008-07, Vol.56 (3), p.325-332</ispartof><rights>Copyright 2008 Neurology India.</rights><rights>COPYRIGHT 2008 Medknow Publications and Media Pvt. Ltd.</rights><rights>Copyright Medknow Publications Jul-Sep 2008</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b479t-92aeb12c153c6e892b5180da69f95e797f0f77849a61b08850426b3e4b6fe2313</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902,79169</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18974559$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fujimura-Kiyono, Chieko</creatorcontrib><creatorcontrib>Racz, Gabor Z</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><title>Myotubular/centronuclear myopathy and central core disease</title><title>Neurology India</title><addtitle>Neurol India</addtitle><description>The term congenital myopathy is applied to muscle disorders presenting
with generalized muscle weakness and hypotonia from early infancy with
delayed developmental milestones. The congenital myopathies have been
classified into various categories based on morphological findings on
muscle biopsy. Although the clinical symptoms may seem homogenous, the
genetic basis is remarkably variable. This review will focus on
myotubular myopathy, centronuclear myopathy, central core disease, and
congenital neuromuscular disease with uniform Type 1 fiber, myopathies
that are subjects of our ongoing examinations.</description><subject>Care and treatment</subject><subject>Central core disease, centronuclear myopathy, congenital myopathy, congenital neuromuscular disease with uniform Type 1 fibers, myotubular myopathy</subject><subject>Central core myopathy</subject><subject>Development and progression</subject><subject>Diagnosis</subject><subject>Disease</subject><subject>Evaluation</subject><subject>Fibers</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genotype & phenotype</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Intellectual disabilities</subject><subject>Muscle Fibers, Skeletal - pathology</subject><subject>Muscles</subject><subject>Muscular dystrophy</subject><subject>Muscular system</subject><subject>Myopathies, Structural, Congenital - genetics</subject><subject>Myopathies, Structural, Congenital - pathology</subject><subject>Myopathies, Structural, Congenital - physiopathology</subject><subject>Myopathy, Central Core - genetics</subject><subject>Myopathy, Central Core - pathology</subject><subject>Myopathy, Central Core - physiopathology</subject><subject>Neuromuscular diseases</subject><subject>Properties</subject><issn>0028-3886</issn><issn>1998-4022</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>RBI</sourceid><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptkc1LJDEQxYO46Kx69iaNh731TL46nXiTwf0Al72s55CkqzXSnYxJ92H-ezPOrMIiCYRU_V5Rj4fQJcFLTjBbYUxlzaQUS854Q47Qgigla44pPUaL9-4p-przc_kyRugJOiVStbxp1ALd_N7GabbzYNLKQZhSDLMbwKRq3MaNmZ62lQld9dYyQ-VigqrzGUyGc_SlN0OGi8N7hh6-3_1d_6zv__z4tb69ry1v1VQrasAS6kjDnACpqG2IxJ0RqlcNtKrtcd-2kisjiMVSNphTYRlwK3qgjLAz9G0_d5Piywx50qPPDobBBIhz1qJ4oRy3Bbz-D3yOcwplN02ZUAwLLAtU76FHM4D2oY_FmHuEAMVfDND7Ur4lUkpGMRGFX37Cl9PB6N2ngtVe4FLMOUGvN8mPJm01wXoXmt7Fonex6LfQiuLqsPdsR-g--ENKHztYHwcf4J1wyRv9rxh8uVgWj-wVXR2gKA</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Fujimura-Kiyono, Chieko</creator><creator>Racz, Gabor Z</creator><creator>Nishino, Ichizo</creator><general>Medknow Publications on behalf of the Neurological Society of India</general><general>Medknow Publications and Media Pvt. 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with generalized muscle weakness and hypotonia from early infancy with
delayed developmental milestones. The congenital myopathies have been
classified into various categories based on morphological findings on
muscle biopsy. Although the clinical symptoms may seem homogenous, the
genetic basis is remarkably variable. This review will focus on
myotubular myopathy, centronuclear myopathy, central core disease, and
congenital neuromuscular disease with uniform Type 1 fiber, myopathies
that are subjects of our ongoing examinations.</abstract><cop>India</cop><pub>Medknow Publications on behalf of the Neurological Society of India</pub><pmid>18974559</pmid><doi>10.4103/0028-3886.43451</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Bioline International; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Care and treatment Central core disease, centronuclear myopathy, congenital myopathy, congenital neuromuscular disease with uniform Type 1 fibers, myotubular myopathy Central core myopathy Development and progression Diagnosis Disease Evaluation Fibers Gene mutations Genetic aspects Genotype & phenotype Health aspects Humans Identification and classification Intellectual disabilities Muscle Fibers, Skeletal - pathology Muscles Muscular dystrophy Muscular system Myopathies, Structural, Congenital - genetics Myopathies, Structural, Congenital - pathology Myopathies, Structural, Congenital - physiopathology Myopathy, Central Core - genetics Myopathy, Central Core - pathology Myopathy, Central Core - physiopathology Neuromuscular diseases Properties |
| title | Myotubular/centronuclear myopathy and central core disease |
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