Key result
A novel FLNC mutation (7256C>T, p.Thr2419Met) was identified in a patient with myofibrillar myopathy and cerebellar ataxia, suggesting the disease spectrum may include cerebellar dysfunction.
Case Report (n=1)
Identifies a novel FLNC mutation in a patient with myofibrillar myopathy, suggesting that the clinical spectrum of filaminopathy may extend to include cerebellar dysfunction.
Hypothesis-generating for cerebellar involvement in FLNC myopathy; leaves open whether this extends the disease spectrum or is coincidental.
INTRODUCTION: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM). METHODS: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. RESULTS: The patient harbored a novel 7256C>T, p.Thr2419Met mutation in exon 44 of FLNC. Clinical, pathological and muscle MRI findings were similar to the previously described filaminopathy cases. This patient had, in addition, cerebellar ataxia with atrophy of cerebellum and vermis evident on brain MRI scan. Extensive screening failed to establish a cause of cerebellar atrophy. CONCLUSIONS: We report an Italian filaminopathy patient, with a novel mutation in a highly conserved region. This case raises the possibility that the disease spectrum caused by FLNC may include cerebellar dysfunction.
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Tasca et al. (2012) conducted a case report in Myofibrillar myopathy and late-onset cerebellar ataxia (n=1). FLNC mutation (7256C>T, p.Thr2419Met) was evaluated on Clinical, pathological and muscle MRI findings. A novel FLNC mutation (7256C>T, p.Thr2419Met) was identified in a patient with myofibrillar myopathy and cerebellar ataxia, suggesting the disease spectrum may include cerebellar dysfunction.
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