Merosin-deficient congenital muscular dystrophy in two siblings.
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.
Hui
C M
CM
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tsing Chung Koon Road, Tuen Mun, Hong Kong. huicm888@hotmail.com
Kwong
L
L
Lam
S Y
SY
Loo
K T
KT
D002648:Child; D004576:Electromyography; D005192:Family Health; D005260:Female; D006801:Humans; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D018763:Muscle Fatigue; D009123:Muscle Hypotonia / Q000503:physiopathology; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000378:metabolism; D014057:Tomography, X-Ray Computed
D007797:Laminin