Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita.
Muniz
Viviane P
VP
Senkevics
Adriano S
AS
Zilbersztajn
Dinorah
D
Gurgel-Giannetti
Juliana
J
Silva
Helga C
HC
Yamamoto
Lydia U
LU
Pavanello
Rita C M
RC
Pearson
Peter L
PL
Zatz
Mayana
M
Vainzof
Mariz
M
D018118:Chloride Channels / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy / Q000235:genetics* / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation; D055435:Myostatin / Q000235:genetics*; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019683:Penetrance
C086321:CLC-1 channel; D018118:Chloride Channels; D055435:Myostatin