TY  - JOUR
AU  - Mavillard, Fabiola
AU  - Madruga-Garrido, Marcos
AU  - Rivas, Eloy
AU  - Servián-Morilla, Emilia
AU  - Ávila-Polo, Rainiero
AU  - Marcos, Irene
AU  - Morón, Francisco J
AU  - Paradas, Carmen
AU  - Cabrera-Serrano, Macarena
PY  - 2019
DO  - 10.1002/acn3.50910
UR  - http://hdl.handle.net/10668/14778
T2  - Annals of clinical and translational neurology
AB  - CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17...
LA  - en
KW  - Adolescent
KW  - Calpain
KW  - Child
KW  - Female
KW  - Founder Effect
KW  - Humans
KW  - Introns
KW  - Male
KW  - Muscle Proteins
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation
KW  - RNA Splicing
KW  - RNA Stability
KW  - Roma
TI  - NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
TY  - research article
VL  - 6
ER  -