POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Defects in glycosylation of alpha-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 alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
Biancheri
Roberta
R
Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy. roberta@biancheri.com
Falace
Antonio
A
Tessa
Alessandra
A
Pedemonte
Marina
M
Scapolan
Sara
S
Cassandrini
Denise
D
Aiello
Chiara
C
Rossi
Andrea
A
Broda
Paolo
P
Zara
Federico
F
Santorelli
Filippo Maria
FM
Minetti
Carlo
C
Bruno
Claudio
C
D001483:Base Sequence; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007249:Inflammation / Q000150:complications / Q000235:genetics / Q000378:metabolism; D008364:Mannosyltransferases / Q000235:genetics* / Q000378:metabolism*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D009154:Mutation / Q000235:genetics
D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase