TY  - GEN 
AU  - Barbosa Gouveia, Sofía
AU  - Vázquez Mosquera, María Eugenia
AU  - González-Vioque, E.
AU  - Hermida Ameijeiras, Alvaro
AU  - Sánchez Pintos, Paula
AU  - De Castro López, María José
AU  - León, S.R.
AU  - Gil-Fournier, B.
AU  - Domínguez-González, C.
AU  - Salas, A.C.
AU  - Negrão, L.
AU  - Fineza, I.
AU  - Laranjeira, F.
AU  - Couce Pico,  María Luz
PY  - 2022
SN  - 2077-0383
UR  - http://hdl.handle.net/20.500.11940/20504
AB  - Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder...
LA  - eng
TI  - Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
DO  - 10.3390/jcm11102750
KW  - AS Santiago
KW  - IDIS
KW  - CHUS
KW  - INIBIC
VL  - 11
ER  -