Central core disease (Q41401): Difference between revisions

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Doença central core (DCC) é um transtorno neuromuscular hereditário caracterizado por núcleos centrais na biópsia muscular e manifestações clínicas de uma miopatia congênita (hipotonia e atraso no desenvolvimento motor) e é caracterizada por fraqueza predominantemente proximal, pronunciada na cintura do quadril.
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Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy (hypotonia and motor developmental delay) and is characterised by predominantly proximal weakness, pronounced in the hip girdle.

Revision as of 07:33, 13 August 2026

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy (hypotonia and motor developmental delay) and is characterised by predominantly proximal weakness, pronounced in the hip girdle.
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8C72.02
    English
    Central core disease
    Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy (hypotonia and motor developmental delay) and is characterised by predominantly proximal weakness, pronounced in the hip girdle.

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