Central core disease.

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dc.contributor.authorGulati, Sheffalien_US
dc.contributor.authorSalhotra, Amandeepen_US
dc.contributor.authorSharma, M Cen_US
dc.contributor.authorSarkar, Chitraen_US
dc.contributor.authorKalra, Veenaen_US
dc.date.accessioned2004-11-02en_US
dc.date.accessioned2009-05-30T15:00:59Z
dc.date.available2004-11-02en_US
dc.date.available2009-05-30T15:00:59Z
dc.date.issued2004-11-02en_US
dc.description.abstractCentral core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.en_US
dc.description.affiliationDepartments of Pediatrics, All India Institute of Medical Sciences, New Delhi 110-029, India. sheffalig@yahoo.comen_US
dc.identifier.citationGulati S, Salhotra A, Sharma MC, Sarkar C, Kalra V. Central core disease. Indian Journal of Pediatrics. 2004 Nov; 71(11): 1021-4en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/83211
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshActivities of Daily Livingen_US
dc.subject.meshBiopsy, Needleen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshExercise Therapyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshMyopathy, Central Core --diagnosisen_US
dc.subject.meshPrognosisen_US
dc.subject.meshRare Diseasesen_US
dc.subject.meshRisk Assessmenten_US
dc.subject.meshSeverity of Illness Indexen_US
dc.titleCentral core disease.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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