Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
BACKGROUND
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.
Don Carlo Gnocchi Onlus Foundation, Italy. tasca.giorgio@virgilio.it
Giorgio
G
Tasca
Zagaa
Z
Odgerel
Mauro
M
Monforte
Stefania
S
Aurino
Nigel F
NF
Clarke
Leigh B
LB
Waddell
Bjarne
B
Udd
Enzo
E
Ricci
Lev G
LG
Goldfarb
D000368:Aged; D003285:Contractile Proteins / Q000235:genetics*; D064448:Filamins; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics* / Q000473:pathology
D003285:Contractile Proteins; C578661:FLNC protein, human; D064448:Filamins; D008840:Microfilament Proteins