A Unique Case of Congenital Muscular Dystrophy
M. Hermanová 1; P. Vondráček 2; Z. Lukáš 1
Patologicko-anatomický ústav FN, Brno 2Klinika dětské neurologie FN, Brno, Masarykova Univerzita
Čes.-slov. Patol., , 2004, No. 2, p. 57-62
The congenital muscular dystrophies (CMD, MDC) represent a heterogeneous group of autosomalrecessive disorders manifesting in infancy by muscle weakness and hypotonia. Approximately40 % of patients with CMD have a primary deficiency of the laminin 2 - chain of merosin (laminin-2) due to mutations in LAMA2 gene. Laminin-2 bound to -dystroglycan forms a link betweenactin - associated cytoskeletal proteins and the components of extracellular matrix. Disruption ofthis axis is responsible for several forms of muscular dystrophy.A unique case of congenital muscular dystrophy simulating a juvenile polymyositis in a musclebiopsy is presented. A profound reduction of -dystroglycan and less pronounced secondary deficiencyof 2-laminin were found. All known forms of CMD were excluded, and the disorder wasdiagnosed as so far undescribed form of CMD. The mutation in a gene encoding the protein, thatseems to play a role in a glycosylation of -dystroglycan, is presumed.
congenital muscular dystrophy - juvenile polymyositis - FKRP - -dystroglycan.
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