Mariz Vainzof

Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

Vincenzo Nigro, Eloisa De Sá Moreira, Giulio Piluso et al. · Nature Genetics · 1996 · 421 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloísa S. Moreira, Tim Wiltshire, Georgine Faulkner et al. · Nature Genetics · 2000 · 333 citations

Skeletal Muscle, Genetic Disorder, Genetics +3

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke et al. · Neuromuscular Disorders · 2013 · 313 citations · Full text

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

Mariz Vainzof · Human Molecular Genetics · 1996 · 190 citations · Full text

Neuromusculoskeletal Disorder, Rare Diseases, Mendelian Disorder +14

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, James J. Dowling, Kathryn N. North et al. · Journal of Child Neurology · 2012 · 182 citations · Full text

Neuromusculoskeletal Disorder, Rare Diseases, Pediatric Orthopedic Surgery +11