Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I
N Darin, AK Kroksmark, AC Åhlander… - European Journal of …, 2007 - Elsevier
Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related
protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe
two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I
mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical
onset was triggered by viral upper respiratory tract infections. In addition to the common
dystrophic pattern with a weak immune histochemical staining for α-dystroglycan, muscle …
protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe
two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I
mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical
onset was triggered by viral upper respiratory tract infections. In addition to the common
dystrophic pattern with a weak immune histochemical staining for α-dystroglycan, muscle …