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OBJECTIVE To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. METHODS One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The(More)
We describe clinical and muscle magnetic resonance imaging (MRI) findings in 11 cases (three familial and eight sporadic) with the form of spinal muscular atrophy characterised by predominant involvement of the lower limbs with weakness of the proximal and distal muscles and marked atrophy of the distal leg and foot muscles. All patients presented at birth(More)
The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested(More)
The aim of this study was to evaluate muscle magnetic resonance imaging findings in patients with congenital muscular dystrophy and Ullrich phenotype. Fifteen children with congenital muscular dystrophy and Ullrich phenotype were included in the study. All patients had collagen VI studies in muscle and, when family structure was informative, linkage studies(More)
Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative(More)
Although the molecular defect causing Becker muscular dystrophy (BMD) has been identified, the biochemical mechanisms that lead to muscle necrosis remain unclear. Exercise-related muscle metabolism in 9 mildly affected BMD patients was assessed by muscle 31-phosphorus magnetic resonance spectroscopy ((31)P MRS) during an incremental workload. Compared with(More)
We report clinical and muscle magnetic resonance imaging (MRI) findings in three individuals (aged 6, 26 and 73 years) from a three-generation family with Bethlem myopathy, confirmed by molecular genetic analysis which showed an exon skipping mutation in the COL6A1 gene. The clinical severity ranged from mild proximal weakness and distal laxity in the(More)
The use of muscle magnetic resonance imaging in patients with muscular dystrophies or congenital myopathies has been limited. We describe the development of a short protocol to be used in young patients with neuromuscular disorders. The protocol includes transverse T1-weighted spin echo sequence images of thighs and calves. The total scanning time is less(More)
Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost. The severity of the phenotype seems to be(More)
Markers of lead intoxication have been developed based on their capacity to identify lead intoxication at the preclinical, ie biochemical stage of manifestation. However, little information on these markers is available under conditions of low lead exposure. This prompted us to conduct a community-based study to determine the usefulness of(More)
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