Journal article
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities
Neurology, Vol.45(11), pp.2084-2089
1995
DOI: 10.1212/WNL.45.11.2084
PMID: 7501163
Abstract
Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogeneous disorders. The most frequent form in the Caucasian population is classic (occidental) CMD, characterized by exclusive muscle involvement, although abnormal brain white matter signals are occasionally observed on MRI. Recently, deficiency of merosin, the laminin isoform in skeletal muscle, has been identified in classic CMD patients. In skeletal muscle, merosin is a native ligand for dystroglycan linking the extracellular matrix and dystrophin. Thus, merosin deficiency could disrupt the attachment of muscle cell to the extracellular matrix and lead to muscle cell necrosis. Since merosin is also expressed in the nervous system and has biologic activities on neurite outgrowth and Schwann cell migration, deficiency of merosin could affect the development of the nervous system. We report here two patients with merosin-negative CMD presenting extensive brain abnormalities characterized by cortical anomaly, polymicrogyria, and abnormal white matter signals.
Details
- Title: Subtitle
- Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities
- Creators
- Y SUNADA - Univ. Iowa coll. medicine, Howard Hughes medical inst. and dep. physiology biophysics, Iowa City IA 52242, United StatesT. S EDGAR - Univ. Iowa coll. medicine, Howard Hughes medical inst. and dep. physiology biophysics, Iowa City IA 52242, United StatesB. P LOTZ - Univ. Iowa coll. medicine, Howard Hughes medical inst. and dep. physiology biophysics, Iowa City IA 52242, United StatesR. S RUST - Univ. Iowa coll. medicine, Howard Hughes medical inst. and dep. physiology biophysics, Iowa City IA 52242, United StatesK. P CAMPBELL - Univ. Iowa coll. medicine, Howard Hughes medical inst. and dep. physiology biophysics, Iowa City IA 52242, United States
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.45(11), pp.2084-2089
- Publisher
- Lippincott Williams & Wilkins; Hagerstown, MD
- DOI
- 10.1212/WNL.45.11.2084
- PMID
- 7501163
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 1995
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068271902771
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