(Q51980072)

19 April 2018

title

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. (English)

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19 April 2018

limb-girdle muscular dystrophy

main subject

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2

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19 April 2018

author name string

Minami N

1

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19 April 2018

Kobayashi O

3

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19 April 2018

Ikezoe K

4

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19 April 2018

Goto Y

5

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19 April 2018

Nonaka I

6

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19 April 2018

publication date

1 December 1999

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19 April 2018

Journal of the Neurological Sciences

published in

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19 April 2018

volume

171

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19 April 2018

issue

1

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19 April 2018

page(s)

31-37

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19 April 2018

On the classification, natural history and treatment of the myopathies.

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

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Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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Calcium-activated neutral protease (calpain) system: structure, function, and regulation

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

7 January 2021

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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

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Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

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Limb-girdle muscular dystrophy: clinical and pathologic reevaluation

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Limb-girdle muscular dystrophy: a follow-up study of 79 patients

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Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

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Sequence comparison among muscle-specific calpain, p94, and calpain subunits

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Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human

7 January 2021

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Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

7 January 2021

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Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

7 January 2021

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Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

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The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin

7 January 2021

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Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

7 January 2021

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Mutations in the sarcoglycan genes in patients with myopathy

7 January 2021

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

7 January 2021

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10.1016/S0022-510X(99)00245-2

7 January 2021

Identifiers

DOI

1 reference

19 April 2018

PubMed ID

10567047

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19 April 2018