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.

Hong Kong Med J 2004;10:423-6

Key words: Laminin; Muscular dystrophies; Congenital