(Q34271964)

1 August 2017

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title

Congenital fiber type disproportion--30 years on. (English)

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1 August 2017

Kathryn N North

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Nigel F Clarke

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1 August 2017

publication date

1 October 2003

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Journal of Neuropathology & Experimental Neurology

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

977-989

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Type 1 fiber size disproportion: morphometric data from 37 children with myopathic, neuropathic, or idiopathic hypotonia

1 August 2017

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Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration

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Clinical course correlates poorly with muscle pathology in nemaline myopathy.

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Congenital fiber type disproportion myopathy in Lowe syndrome.

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Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation.

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Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients.

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Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline.

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Akt/mTOR pathway is a crucial regulator of skeletal muscle hypertrophy and can prevent muscle atrophy in vivo

21 January 2018

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A protein kinase B-dependent and rapamycin-sensitive pathway controls skeletal muscle growth but not fiber type specification

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Calcineurin controls nerve activity-dependent specification of slow skeletal muscle fibers but not muscle growth

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The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

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Identifiers

DOI

10.1093/JNEN/62.10.977

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1 August 2017

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