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• W1987403718 abstract "To determine the clinical characteristics of limb-girdle muscular dystrophy 2E (LGMD2E), and to analyze the genetic and histopathological features. All LGMD2E patients followed at three European neuromuscular centres were included. The past medical history was collected, and disease course was evaluated by specific questionnaires. Molecular analysis of SGCB gene and histopathological features were reviewed. Whole-body T1 weighted MRI was performed in order to evaluate the muscle involvement pattern respectively in one mildly and one severely affected patients. 27 patients (15M–12F, 9–66 years) from 22 families were included. Two populations could be identified according to disease severity: a severe form (n = 17) with onset <10 years (median 3 years) and early loss of ambulation (13/17pts, median 12 years) and a milder form (n = 10) with later onset (median 13.5 years) and slower progression (two patients ambulant at 50 and 66 years). Fifty-one mutated alleles were identified (14 mutations) in 26 patients; two mutations were recurrent, associated with the severe form (c.376_383dup, 13/34 alleles) or the milder form (c.-22_10dup32, 8/20). A hypokinetic or dilated cardiomyopathy was observed in 12 patients (44%, median 28.5 years). Six patients had a restrictive respiratory insufficiency requiring ventilation (22%, median 39 years). MRI examinations showed similar area of fatty replacement more pronounced in the older patient with longer evolution: Latissimus dorsi, spine extensors and abdominal belt in trunk; glutei, great and longus adductors in pelvic girdle; anterior and posterior compartments with sparing of rectus femoris, gracilis, sartorius and short head of the biceps femoris in thighs. This study refines the phenotypic spectrum of LGMD2E, and identifies two mutations predictive of the disease course. The LGMD2E phenotype is associated with a high incidence of cardiomyopathy and less frequent respiratory insufficiency. To determine the clinical characteristics of limb-girdle muscular dystrophy 2E (LGMD2E), and to analyze the genetic and histopathological features. All LGMD2E patients followed at three European neuromuscular centres were included. The past medical history was collected, and disease course was evaluated by specific questionnaires. Molecular analysis of SGCB gene and histopathological features were reviewed. Whole-body T1 weighted MRI was performed in order to evaluate the muscle involvement pattern respectively in one mildly and one severely affected patients. 27 patients (15M–12F, 9–66 years) from 22 families were included. Two populations could be identified according to disease severity: a severe form (n = 17) with onset <10 years (median 3 years) and early loss of ambulation (13/17pts, median 12 years) and a milder form (n = 10) with later onset (median 13.5 years) and slower progression (two patients ambulant at 50 and 66 years). Fifty-one mutated alleles were identified (14 mutations) in 26 patients; two mutations were recurrent, associated with the severe form (c.376_383dup, 13/34 alleles) or the milder form (c.-22_10dup32, 8/20). A hypokinetic or dilated cardiomyopathy was observed in 12 patients (44%, median 28.5 years). Six patients had a restrictive respiratory insufficiency requiring ventilation (22%, median 39 years). MRI examinations showed similar area of fatty replacement more pronounced in the older patient with longer evolution: Latissimus dorsi, spine extensors and abdominal belt in trunk; glutei, great and longus adductors in pelvic girdle; anterior and posterior compartments with sparing of rectus femoris, gracilis, sartorius and short head of the biceps femoris in thighs. This study refines the phenotypic spectrum of LGMD2E, and identifies two mutations predictive of the disease course. The LGMD2E phenotype is associated with a high incidence of cardiomyopathy and less frequent respiratory insufficiency." @default.
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• W1987403718 date "2013-10-01" @default.
• W1987403718 modified "2023-10-13" @default.
• W1987403718 title "P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients" @default.
• W1987403718 doi "https://doi.org/10.1016/j.nmd.2013.06.459" @default.
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