Hong Kong Med J 2004;10:423-6 | Number 6, December 2004
Merosin-deficient congenital muscular dystrophy in two siblings
CM Hui, L Kwong, SY Lam, KT Loo
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tsing Chung Koon Road, Tuen Mun, Hong Kong
Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called ‘pure’ or ‘occidental’ form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital muscular dystrophy. The clinical picture, biopsy findings, and abnormalities as detected by the magnetic resonance imaging of the two patients are presented.
Key words: Laminin; Muscular dystrophies; Congenital
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