No abstract available
Keywords:
CNS; Filamin-C; MRI; Myofibrillar myopathy; Spinal cord.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Ataxia
-
Atrophy
-
Cerebellar Ataxia / diagnostic imaging
-
Cerebellar Ataxia / genetics*
-
Cerebellar Ataxia / physiopathology
-
Cerebellum / diagnostic imaging
-
Cerebellum / pathology
-
Female
-
Filamins / genetics*
-
Humans
-
Magnetic Resonance Imaging
-
Male
-
Middle Aged
-
Muscle, Skeletal / pathology*
-
Muscle, Skeletal / ultrastructure
-
Myopathies, Structural, Congenital / diagnostic imaging
-
Myopathies, Structural, Congenital / genetics*
-
Myopathies, Structural, Congenital / pathology
-
Myopathies, Structural, Congenital / physiopathology
-
Pedigree
-
Siblings
-
Spinal Cord / diagnostic imaging
-
Spinal Cord / pathology
Substances
-
FLNC protein, human
-
Filamins