Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Stober
Andrea
A
Department of Neurology, Marienhospital, Stuttgart, Germany.
Aleo
Angelo
A
Kuhl
Valerio
V
Bornemann
Antje
A
Walter
Maggie C
MC
Lochmüller
Hanns
H
Lindner
Alfred
A
Krause
Sabine
S