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Article

Infantile muscular dystrophy in Canadian aboriginals is an αB‐crystallinopathy

17 Nov 2010

Abstract excerpt

OBJECTIVE: A recessively transmitted fatal hypertonic infantile muscular dystrophy has been described in Canadian aboriginals. The affected infants present with progressive limb and axial muscle stiffness and develop severe respiratory insufficiency, and most die in the first year of life. We sought to determine the genetic basis of this disease. METHODS: We performed histochemical, immunocytochemical, electron...

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PMID: 21337604
DOI: 10.1002/ana.22331

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