(Q60594482)
Statements
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments (English)
P Reilich
J A Petersen
S Vielhaber
C Mawrin
C Sommer
M Deschauer
D Pongratz
H Lochmüller