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- W2070516642 abstract "Objective: To describe the morphological pattern of muscle biopsy in a large cohort of FSHD patients. To identify any morphological FSHD marker considering the peculiar muscle alterations we recently identified in the mouse model of this disease. To correlate the morphological alterations with D4Z4 deletions. Introduction: FSHD is an autosomal dominant muscular dystrophy associated with deletions of repetitive elements, named D4Z4, located at the chromosome 4q subtelomere, leading to inappropriate overexpression in skeletal muscle of FRG1, FGR2 and ANT1 genes. We recently studied the FSHD animal model selectively overexpressing FRG1 gene in skeletal muscle. Muscle biopsy showed alterations of sarcolemmal integrity, fiber size variability, central nuclei, connective tissue and fiber necrosis. These alterations increase with age and with the level of FRG1 overexpression. In particular, skeletal muscle of 13-week-old mice showed a dystrophic pattern. Interestingly, 4-week-old mice showed muscle fiber hypertrophy at lower FRG1 expression and a diffuse atrophy at the highest one. Notably, at this age dystrophic changes were absent at every FRG1 expression level. Given these results, muscle atrophy could play an important role in the pathogenesis of the disease, being the earliest morphological marker. Material: We studied biceps muscle biopsies from 49 patients (29 males and 20 females, aged 6–70 years) affected with familiar or sporadic genetically determined FSHD. Muscle cryostatic cross-sections were processed according to standard techniques. Cross-section area (CSA) was evaluated. Results and discussion: We identified four groups of patients homogenous for age and sex, showing specific muscle morphological aspects. Twenty muscle biopsies were normal, 9 presented neurogenic features, 5 showed an inflammatory pattern, and 15 were dystrophic. CSA evaluation allowed us to identify early muscle fiber atrophy in few patients. D4Z4 deletions were related to each group of skeletal muscle alteration." @default.
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- W2070516642 date "2008-10-01" @default.
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- W2070516642 title "D.P.1.08 Morphological pattern of muscle biopsy in a large cohort of FSHD patients" @default.
- W2070516642 doi "https://doi.org/10.1016/j.nmd.2008.06.021" @default.
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