Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. (Q50645413)

17 March 2018

title

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. (English)

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17 March 2018

limb-girdle muscular dystrophy

main subject

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Luca Bello

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Giovanni Mento

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Corrado Angelini

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17 March 2018

author name string

A Palmieri

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17 March 2018

L Lazzarini

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17 March 2018

C Borsato

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L Bortolussi

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E Pegoraro

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17 March 2018

publication date

4 February 2011

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17 March 2018

published in

Journal of Neurology

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volume

258

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issue

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17 March 2018

page(s)

1312-1320

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Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

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Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

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The phenotype of limb-girdle muscular dystrophy type 2I

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Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

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21 January 2018

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

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Muscle pathology in dysferlin deficiency

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Identifiers

DOI

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17 March 2018

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17 March 2018