Beta-sarcoglycanopathy.
Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce. The authors report a case of primary beta-sarcoglycanopathy and describe literature pertaining to this rare entity.
Kapoor
Seema
S
Department of Pathology, GB Pant Hospital, New Delhi, India. seemam@vsnl.com
Tatke
Medha
M
Aggarwal
Sandeep
S
Gupta
Ashish
A
D002675:Child, Preschool; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics* / Q000378:metabolism
D049031:Sarcoglycans