Congenital muscular dystrophy and cerebellar atrophy.
case_series · Level IV
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- Record sourced from PubMed, PMID 9596013.
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Abstract
Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.
Medical subject headings
- Cerebellum
- Muscular Dystrophies