Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B.
Muscular dystrophies are inherited muscle disorders associated with different gene mutations. Fukuyama congenital muscular dystrophy is associated with cobblestone lissencephaly and epilepsy frequently. Rarely, other types of muscular dystrophies are also associated with epilepsy including Duchenne and Becker muscular dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with partial and complete deficiency of laminin alpha2 chain, and limb-girdle muscular dystrophy 2A with calpain deficiency. We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation.
Tsao
Chang-Yong
CY
Departments of Pediatric and Neurology, The Ohio State University, Columbus, Ohio, USA. changyong.tsao@nationwidechildrens.org
Mendell
Jerry R
JR
D000293:Adolescent; D004828:Epilepsies, Partial / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics; D009154:Mutation
C494847:LMNA protein, human; D034904:Lamin Type A