Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

Muscle and Nerve

Volumn 21, Issue 6, 1998, Pages 769-775

  Angelini, Corrado ^a   Fanin, Marina ^a   Menegazzo, Elisabetta ^a   Freda, Maria Pia ^a   Duggan, David J ^b   Hoffman, Eric P ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Sarcoglycan; Limb girdle muscular dystrophy; Sarcoglycan complex

Indexed keywords

DEFLAZACORT; SARCOGLYCAN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; FUNCTIONAL ASSESSMENT; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUSCLE STRENGTH; PRIORITY JOURNAL;

ADULT; ANTI-INFLAMMATORY AGENTS; BIOLOGICAL MARKERS; BIOPSY; BLOTTING, WESTERN; CREATINE KINASE; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNENEDIONES; SARCOGLYCANS; TOMOGRAPHY, X-RAY COMPUTED; TRANSCRIPTION, GENETIC;

EID: 0031811334     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5     Document Type: Article

References (8)

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6. Duggan DJ, Fanin M, Pegoraro E, Angelini C, Hoffman EP: α-Sarcoglycan (adhalin) deficiency: complete deficiency are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 1996;140:30-39.
7. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C: Mutations in the sarcoglycan genes in myopathy patients. N Engl J Med 1997;336:618-624.
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