Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
- 1 December 2000
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 10 (8) , 541-547
- https://doi.org/10.1016/s0960-8966(00)00139-5
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin statusNeuromuscular Disorders, 1999
- Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardationBrain & Development, 1999
- Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblingsNeuromuscular Disorders, 1998
- Congenital muscular dystrophy and cerebellar atrophyNeurology, 1998
- Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: A new entity in two familiesEuropean Journal of Paediatric Neurology, 1997
- Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chainNeuromuscular Disorders, 1997
- Merosin positive congenital muscular dystrophy with severe involvement of the central nervous systemBrain & Development, 1996
- Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy 22–24 April 1994, The NetherlandsNeuromuscular Disorders, 1995
- Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mappingHuman Molecular Genetics, 1994
- 22nd ENMC Sponsored Workshop on Congenital Muscular Dystrophy held in Baarn, The Netherlands, 14–16 May 1993Neuromuscular Disorders, 1994