Annachiara Nascimbeni

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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(More)
Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. Some patients are severely affected, whereas others are minimally affected or asymptomatic. The molecular basis of the disease has been elucidated but does not provide an explanation for the clinical variability. In a large cohort of patients(More)
Since 2006 ERT is available in Europe and numerous studies were reported both in infantile and in juvenile adult patients that demonstrated variable efficacy (1, 2). We have followed infants treated with ERT either early in the first year or later. In one child with onset at birth, diagnosed in the third day of life we observed an excellent long-term(More)
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