Gamma-sarcoglycanopathy.
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.
Gulati
Sheffali
S
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
Leekha
Surbhi
S
Sharma
M C
MC
Kalra
Veena
V
D001707:Biopsy, Needle; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism*; D005808:Genes, Recessive; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D011379:Prognosis; D012508:Sarcolemma / Q000235:genetics / Q000378:metabolism*
D003598:Cytoskeletal Proteins