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Centronuclear myopathy 1

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypotonia skeletal 100 % 17932957 2014-04-30
Muscle weakness skeletal 100 % 17932957 2014-04-30
Ptosis nervous 80 % 17932957 2014-04-30
Ophthalmoplegia nervous 80 % 17932957 2014-04-30
Contracture skeletal 80 % 17932957 2014-04-30
Hypermobile joints skeletal 75 % 17932957 2014-04-30
Developmental delay skeletal 60 % 17932957 2014-04-30
Pes cavus skeletal 40 % 17932957 2014-04-30
Scoliosis skeletal 40 % 17932957 2014-04-30
Increased blood CK circulatory 20 % 17932957 2014-04-30

List of references:

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Marc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B Romero, Pascale Guicheney,

We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis. Electrophysiology showed only myopathic changes, and muscle biopsies showed central nuclei and type 1 fiber hypotrophy and predominance. Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype.

Annals of neurology - Dec 2007

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