Detalhe da pesquisa
1.
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Hum Mol Genet
; 28(4): 639-649, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358850
2.
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
BMC Med Genet
; 18(1): 22, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28245802
3.
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Ann Clin Transl Neurol
; 9(6): 888-892, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482023
4.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Ann Clin Transl Neurol
; 2(5): 492-509, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26000322