Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Muscle and Nerve

Volumn 46, Issue 2, 2012, Pages 275-282

  Tasca, Giorgio ^a   Odgerel, Zagaa ^b   Monforte, Mauro ^c   Aurino, Stefania ^d   Clarke, Nigel F ^e   Waddell, Leigh B ^e   Udd, Bjarne ^f   Ricci, Enzo ^c   Goldfarb, Lev G ^b  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c CATHOLIC UNIVERSITY   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e UNIVERSITY OF SYDNEY   (Australia)

^f TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

Author keywords

Cerebellar ataxia; Filaminopathy; FLNC; Muscle MRI; Myofibrillar myopathy

Indexed keywords

FILAMIN C; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

AGED; ARTICLE; ATAXIA; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CONSANGUINEOUS MARRIAGE; ELECTROMYOGRAM; ELECTRON MICROSCOPY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE CONDUCTION; MUSCLE BIOPSY; MYOFIBRILLAR MYOPATHY; MYOPATHY; MYOTATIC REFLEX; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SENSORY NERVE CONDUCTION;

AGED; CONTRACTILE PROTEINS; HUMANS; MALE; MICROFILAMENT PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; SPINOCEREBELLAR DEGENERATIONS;

EID: 84864014397     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23349     Document Type: Article

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