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The aim of this study is to describe and correlate the clinical and MRI data in facio-scapulo-limb, type 2 (FSLD2) (the same as a facioscapuloperoneal or a FSHD1) family members. We studied 17 FSLD2 patients (10 men and 7 women, 17-73 years old; mean age 40 ± 3.7) from 12 families with 4q35 p13E11 EcoRI/ BlnI deletion 13-28 kb. Five patients were presymptomatic (Pr) and 12 were symptomatic. MRI of 20 muscles bilaterally in observed patients was performed on a 1.5-tesla Siemens Magneton Vision system using axial T1 and T2 weighted images.

journal of neurology and experimental neuroscience

MRI of Lower Limb Muscle in Patients with 4q35-linked Facio-Scapulo-Limb, Type 2 (the Same as a Facioscapuloperoneal or a FSHD1) Autosomal Dominant Muscular Dystrophy