POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri; Antonio Falace; Alessandra Tessa; Marina Pedemonte; Sara Scapolan; Denise Cassandrini; Chiara Aiello; Andrea Rossi; Paolo Broda; Federico Zara; Filippo Maria Santorelli; Carlo Minetti; Claudio Bruno

doi:10.1016/j.bbrc.2007.09.066

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa, Marina Pedemonte, Sara Scapolan, Denise Cassandrini, Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli, Carlo Minetti, Claudio Bruno

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1033-1037
Number of pages	5
Journal	Biochemical and Biophysical Research Communications
Volume	363
Issue number	4
DOIs	https://doi.org/10.1016/j.bbrc.2007.09.066
Publication status	Published - Nov 30 2007

Keywords

Congenital muscular dystrophy
Dystroglycan
Glycosylation
POMT2

ASJC Scopus subject areas

Biochemistry
Biophysics
Molecular Biology

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10.1016/j.bbrc.2007.09.066

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Biancheri, R., Falace, A., Tessa, A., Pedemonte, M., Scapolan, S., Cassandrini, D., Aiello, C., Rossi, A., Broda, P., Zara, F., Santorelli, F. M., Minetti, C., & Bruno, C. (2007). POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochemical and Biophysical Research Communications, 363(4), 1033-1037. https://doi.org/10.1016/j.bbrc.2007.09.066

Biancheri, R, Falace, A, Tessa, A , Pedemonte, M, Scapolan, S, Cassandrini, D, Aiello, C, Rossi, A, Broda, P, Zara, F , Santorelli, FM , Minetti, C & Bruno, C 2007, 'POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes', Biochemical and Biophysical Research Communications, vol. 363, no. 4, pp. 1033-1037. https://doi.org/10.1016/j.bbrc.2007.09.066

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abstract = "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.",

keywords = "Congenital muscular dystrophy, Dystroglycan, Glycosylation, POMT2",

author = "Roberta Biancheri and Antonio Falace and Alessandra Tessa and Marina Pedemonte and Sara Scapolan and Denise Cassandrini and Chiara Aiello and Andrea Rossi and Paolo Broda and Federico Zara and Santorelli, {Filippo Maria} and Carlo Minetti and Claudio Bruno",

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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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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Abstract

Keywords

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