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Indian Pediatr ; 2003 Nov; 40(11): 1077-81
Article in English | IMSEAR | ID: sea-8028

ABSTRACT

The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of primary gamma-sarcoglycanopathy (SGP) which emphasizes the evolving concept of dystrophinopathy to sarco-glycanopathy.


Subject(s)
Biopsy, Needle , Child , Cytoskeletal Proteins/genetics , Genes, Recessive , Humans , Immunohistochemistry , India , Male , Muscle, Skeletal/pathology , Muscular Dystrophies/diagnosis , Prognosis , Sarcolemma/genetics
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