Ask about this productRelated genes to: FKTN Blocking Peptide
- Gene:
- FKTN NIH gene
- Name:
- fukutin
- Previous symbol:
- FCMD
- Synonyms:
- LGMD2M
- Chromosome:
- 9q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-12-01
- Date modifiied:
- 2019-04-23
Related products to: FKTN Blocking Peptide
Related articles to: FKTN Blocking Peptide
- Muscle-Eye-Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy. This systematic review aims to explore all current literature data regarding clinical and electroencephalographic features of MEB cases with epilepsy. - Source: PubMed
Publication date: 2026/03/07
Kalampokini StefaniaPityrigkas EvripidisLiouta EleniPepe GeorgiaPoulidou VasilikiSpilioti MarthaKimiskidis Vasilios K - Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutations may involve both cardiac and skeletal muscle, consistent with limb-girdle muscular dystrophy (LGMD), with cardiac disease sometimes preceding neuromuscular symptoms. - Source: PubMed
Publication date: 2026/02/20
Cardona Perez AlejandraMoenning ReneeBodkin CynthiaGutmann LaurieHelm Benjamin MWells LayneMoore Steven AIlonze Onyedika J - Fukuyama congenital muscular dystrophy (FCMD) is a severe autosomal recessive α-dystroglycanopathy caused by biallelic variants in the FKTN gene, characterized by muscular, neurological, and ocular involvement. This study aimed to evaluate the ophthalmologic manifestations associated with specific FKTN variant subtypes in Korean patients with FCMD. - Source: PubMed
Publication date: 2025/11/04
Lee Seok JaeJoo Hye JunJo Dong HyunJung Jae HoLee KihwangKim Jeong HunKim Seong-JoonChae Jong Hee - - Source: PubMed
Publication date: 2025/10/16
Messina Christian - - Source: PubMed
Publication date: 2025/09/18
Messina Christian