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De novo LMNA mutations cause a new form of congenital muscular dystrophy
To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations.
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Mutations in TPM3 are a common cause of congenital fiber type disproportion
Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which the principal histological abnormality is hypotrophy of type 1 (slow‐twitch) fibers compared with type 2Expand
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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutationsExpand
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. WeExpand
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Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), aExpand
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis. RNA analysis for patients Although genome and exomeExpand
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Congenital Fiber Type Disproportion—30 Years On
  • N. Clarke, K. North
  • Medicine
  • Journal of neuropathology and experimental…
  • 1 October 2003
Thirty years ago, M. H. Brooke coined the term “congenital fiber type disproportion” (CFTD) to describe 12 children who had clinical features of a congenital myopathy and relative type 1 fiberExpand
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Actin mutations are one cause of congenital fibre type disproportion
We report three heterozygous missense mutations of the skeletal muscle alpha actin gene (ACTA1) in three unrelated cases of congenital fiber type disproportion (CFTD) from Japan and Australia. ThisExpand
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SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance
Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber‐type disproportion (CFTD), a rare form of congenital myopathy in which relative hypotrophy of type 1Expand
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have beenExpand
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