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Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-...

Malaquias, Maria João; Mendonça Pinto, Miguel; Pinto, Eduarda; Pinto Basto, Jorge; Cardoso, Márcio; M. Pires, Manuel; Taipa, Ricardo; Chaves, João

Pathogenic biallelic variants in POGLUT1 were linked to limb-girdle muscular dystrophy R21 (LGMD R21), a new type of LGMD featuring pelvic and shoulder girdle weakness, variable age of onset, slowly progressive course, and “inside-to-outside” fatty degeneration pattern in muscle magnetic resonance imaging (MRI). We describe a 54-year-old female with an infantile-onset, slowly progressive, pelvicgirdle myopathy,...

Date: 2024   |   Origin: SINAPSE
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