Detalhe da pesquisa
1.
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Muscle Nerve
; 45(2): 279-83, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246887
2.
Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.
Muscle Nerve
; 41(3): 427-8, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19918890