Population frequencies of inherited neuromuscular diseases—A world survey

@article{Emery1991PopulationFO,
  title={Population frequencies of inherited neuromuscular diseases—A world survey},
  author={Alan E. H. Emery},
  journal={Neuromuscular Disorders},
  year={1991},
  volume={1},
  pages={19-29}
}
  • A. Emery
  • Published 31 December 1991
  • Medicine, Psychology
  • Neuromuscular Disorders
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TLDR
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TLDR
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TLDR
The population-based prevalence of Duchenne/Becker muscular dystrophy (DBMD) is estimated and selected clinical outcomes are described, emphasizing the need to develop and implement programs that address lifelong needs of males with DBMD.
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.
TLDR
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A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene
TLDR
Newborn screening programmes of Duchenne muscular dystrophy (DMD)/BMD based on sCPK marked increase may be considered, and parents of the children carriers of the exon 48 deletion are usually unaware of their children being affected, and possibly at risk of developing life-threatening cardiomyopathy.
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
TLDR
The incidence and prevalence rates that have been obtained represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.
Genetic Evaluation of Inherited Muscle Diseases
TLDR
A general understanding of the cellular pathways involved in maintaining proper muscle fiber integrity helps provide a road map for evaluating less common disorders that are more of a diagnostic challenge, including limb-girdle muscular dystrophy, distalmyopathy, congenital myopathy, and congenital muscular Dystrophy.
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Gross abnomalities of serum enzymes in 12 younger siblings of affected individuals in these two families suggest that these enzyme determinations are useful in detecting preclinical, limb-girdle muscular dystrophy.
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