Adhalin deficiency: an unusual cause of muscular dystrophy.

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dc.contributor.authorDua, Ten_US
dc.contributor.authorKalra, Ven_US
dc.contributor.authorSharma, M Cen_US
dc.contributor.authorKabra, Men_US
dc.date.accessioned2001-11-05en_US
dc.date.accessioned2009-05-30T16:15:16Z
dc.date.available2001-11-05en_US
dc.date.available2009-05-30T16:15:16Z
dc.date.issued2001-11-05en_US
dc.description.abstractChildhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.en_US
dc.identifier.citationDua T, Kalra V, Sharma MC, Kabra M. Adhalin deficiency: an unusual cause of muscular dystrophy. Indian Journal of Pediatrics. 2001 Nov; 68(11): 1083-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/84392
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshBiopsy, Needleen_US
dc.subject.meshCytoskeletal Proteins --deficiencyen_US
dc.subject.meshDeficiency Diseases --diagnosisen_US
dc.subject.meshDiagnosis, Differentialen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Glycoproteins --deficiencyen_US
dc.subject.meshMuscular Dystrophy, Duchenne --diagnosisen_US
dc.subject.meshPedigreeen_US
dc.subject.meshSarcoglycansen_US
dc.subject.meshSeverity of Illness Indexen_US
dc.titleAdhalin deficiency: an unusual cause of muscular dystrophy.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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