TY - JOUR
T1 - POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
AU - Biancheri, Roberta
AU - Falace, Antonio
AU - Tessa, Alessandra
AU - Pedemonte, Marina
AU - Scapolan, Sara
AU - Cassandrini, Denise
AU - Aiello, Chiara
AU - Rossi, Andrea
AU - Broda, Paolo
AU - Zara, Federico
AU - Santorelli, Filippo Maria
AU - Minetti, Carlo
AU - Bruno, Claudio
PY - 2007/11/30
Y1 - 2007/11/30
N2 - Defects in glycosylation of α-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
AB - Defects in glycosylation of α-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
KW - Congenital muscular dystrophy
KW - Dystroglycan
KW - Glycosylation
KW - POMT2
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U2 - 10.1016/j.bbrc.2007.09.066
DO - 10.1016/j.bbrc.2007.09.066
M3 - Article
C2 - 17923109
AN - SCOPUS:35148838187
VL - 363
SP - 1033
EP - 1037
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 4
ER -