Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.

@article{Reed2009CongenitalMD,
  title={Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.},
  author={Umbertina Conti Reed},
  journal={Arquivos de neuro-psiquiatria},
  year={2009},
  volume={67 1},
  pages={
          144-68
        }
}
  • U. Reed
  • Published 1 March 2009
  • Medicine, Biology
  • Arquivos de neuro-psiquiatria
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the… 
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References

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
TLDR
Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts, which adds structural brain defects to the already wide spectrum of abnormalities caused by FK RP mutations.
Congenital muscular dystrophy with merosin deficiency.
TLDR
A specific absence of merosin, the laminin M chain, is observed in 13 patients affected by classical non-Japanese form of congenital muscular dystrophy, which allows the precise identification of a particular form of Congenital muscular Dystrophy and gives a clue to understanding its molecular pathogenesis.
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
TLDR
Results strongly suggest that particular FKRP mutations in the homozygous state induce structural and clinical neurological lesions in addition to muscular dystrophy.
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
TLDR
It is suggested that abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C, which is mapped to human chromosome 19q13.
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
TLDR
This study is the first description of a locus for a merosin-positive CMD and will help to better define the nosology of RSS.
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
TLDR
The secondary reduction in laminin-alpha2 chain in these families suggests that the primary genetic defect resides in a gene coding for a protein involved in basal lamina assembly, and calling this disorder "CMD1B" is suggested.
Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy
TLDR
The LAMA2 gene was investigated for the presence of disease-causing mutations in laminin α2 chain-deficient CMD families and now report splice site and nonsense mutations in two families leading presumably to a truncated laminIn α2 protein.
Merosin-positive congenital muscular dystrophy: a large inbred family.
TLDR
The family presented is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy, and localise the gene responsible for this condition is in progress.
Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases.
TLDR
There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of beta-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.
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