Literature DB >> 19258295

Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B.

Chang-Yong Tsao1, Jerry R Mendell.   

Abstract

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.

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 19258295     DOI: 10.1177/0883073808323525

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  2 in total

1.  Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

Authors:  Kellie A Schaefer; Marcus A Toral; Gabriel Velez; Allison J Cox; Sheila A Baker; Nicholas C Borcherding; Diana F Colgan; Vimala Bondada; Charles B Mashburn; Chen-Guang Yu; James W Geddes; Stephen H Tsang; Alexander G Bassuk; Vinit B Mahajan
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-05-01       Impact factor: 4.799

2.  A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Authors:  Xiao-Dan Lin; Jun-Jie He; Feng Lin; Hai-Zhu Chen; Liu-Qing Xu; Wei Hu; Nai-Qing Cai; Min-Ting Lin; Ning Wang; Zhi-Qiang Wang; Guo-Rong Xu
Journal:  Chin Med J (Engl)       Date:  2018-09-20       Impact factor: 2.628

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.