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Article

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Journal of the neurological sciences - 15 Apr 2006

Lamperti Costanza, Cagliani Rachele, Ciscato Patrizia, Moroni Isabella, Viri Maurizio, Romeo Antonio, Fagiolari Gigliola, Prelle Alessandro, Comi Giacomo Pietro, Bresolin Nereo, Moggio Maurizio

Abstract excerpt

Congenital muscular dystrophies (CMD) are autosomal recessive infantile disorders characterized by dystrophic changes at muscle biopsy and contractures. Central nervous system (CNS) abnormalities associated with mental retardation are often present. We describe a patient affected with muscle weakness, psychomotor developmental delay and normal brain MRI. Muscle biopsy showed complete absence of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16386759
DOI: 10.1016/j.jns.2005.11.024

Genes

FKRP
POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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