Article
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Neuromuscular disorders : NMD - 1 Feb 2005
Mercuri Eugenio, Bushby Kate, Ricci Enzo, Birchall Daniel, Pane Marika, Kinali Maria, Allsop Joanna, Nigro Vincenzo, Sáenz Amets, Nascimbeni Annachiara, Fulizio Luigi, Angelini Corrado, Muntoni Francesco
Abstract excerpt
Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions. We report clinical and muscle magnetic resonance imaging findings in seven limb girdle muscular dystrophy 2A patients (four sporadic and three familial) who had prominent and early...
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