title: Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).
abstract: Limb girdle muscular dystrophy type 2I (LGMD2I) is caused by defects in the fukutin-related protein (FKRP) gene. In most Caucasian patients with LGMD2I, the condition is associated with a missense mutation - c.826C>A (p.Leu276Ile). We describe two Chinese brothers with progressive shoulder and pelvic muscle weakness. They had muscle stiffness and myalgia after exercise, but lacked obvious hypertrophy of the calves. Muscle biopsy showed dystrophic features with many rimmed vacuoles in the fibers. Immunohistochemistry and immunoblot analyses revealed reductions of alpha-(α)-dystroglycan (VIA4-1) and laminin-α2 (80-kDa C-terminal and 300-kDaN-terminal). Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in these patients. In addition, we summarise the clinical features of patients with LGMD2I in the Asian region. Our findings might indicate that the pathogenic FKRP mutations in Asian patients with LGMD2I are sporadic compound heterozygous mutations rather than the hot-spot c.826C>A mutation seen in Caucasian populations.
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing 100034, China.
authors.forename: Daojun
authors.initials: D
authors.lastname: Hong
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020125:Mutation, Missense; D010375:Pedigree; D010430:Pentosyltransferases; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases